C001 phenome
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377789 malformation syndrome
definition
A set of morphological anomalies resulting from a developmental anomaly involving more than one morphogenetic field, regardless of the cause. Includes sequences and associations.
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10 48,XXYY syndrome
100011 Lissencephaly with cerebellar hypoplasia type A
100012 Lissencephaly with cerebellar hypoplasia type B
100013 Lissencephaly with cerebellar hypoplasia type C
100014 Lissencephaly with cerebellar hypoplasia type D
100015 Lissencephaly with cerebellar hypoplasia type E
100016 Lissencephaly with cerebellar hypoplasia type F
100071 Mosaic trisomy 3
1001 2q37 microdeletion syndrome
1003 Scalp defects-postaxial polydactyly syndrome
1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
1027 Autosomal recessive amelia
1028 Ameloonychohypohidrotic syndrome
1031 Amelogenesis imperfecta-nephrocalcinosis syndrome
1041 Hydrops fetalis
1046 Lethal hemolytic anemia-genital anomalies syndrome
1051 Ramos-Arroyo syndrome
1052 Mosaic variegated aneuploidy syndrome
1059 Blue rubber bleb nevus
1064 Aniridia-renal agenesis-psychomotor retardation syndrome
1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome
1068 Aniridia-intellectual disability syndrome
1069 Aniridia-absent patella syndrome
107 BOR syndrome
1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome
1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome
1077 Dental ankylosis
1078 Thumb stiffness-brachydactyly-intellectual disability syndrome
109 Bannayan-Riley-Ruvalcaba syndrome
1092 Renal-genital-middle ear anomalies
1094 Anonychia-microcephaly syndrome
11 Pentasomy X
1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
1104 Anophthalmia plus syndrome
1106 Microphthalmia with limb anomalies
1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
1113 Aphalangy-syndactyly-microcephaly syndrome
1114 Aplasia cutis congenita
1118 Fibular aplasia-ectrodactyly syndrome
1120 Lung agenesis-heart defect-thumb anomalies syndrome
1121 Radial deficiency-tibial hypoplasia syndrome
1122 Ulnar hypoplasia-split foot syndrome
1123 Caudal appendage-deafness syndrome
1126 Aprosencephaly cerebellar dysgenesis
1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
1130 Arachnodactyly-intellectual disability-dysmorphism syndrome
1131 X-linked mandibulofacial dysostosis
1133 AREDYLD syndrome
1134 Isolated arrhinia
1135 Arrhinia-choanal atresia-microphthalmia syndrome
114 Auriculoosteodysplasia
1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
1146 Digitotalar dysmorphism
1147 Sheldon-Hall syndrome
1149 Arthrogryposis-like syndrome
115 Congenital contractural arachnodactyly
1150 Arthrogryposis multiplex congenita-whistling face syndrome
1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
116 Beckwith-Wiedemann syndrome
1174 Cerebellar ataxia-ectodermal dysplasia syndrome
1184 Ataxia-photosensitivity-short stature syndrome
1188 Ataxia-deafness-intellectual disability syndrome
1190 Atelosteogenesis type I
1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
1193 Atkin-Flaitz syndrome
1200 Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
1202 Larynx atresia
122 Birt-Hogg-Dubé syndrome
1225 Baller-Gerold syndrome
1226 Bamforth-Lazarus syndrome
1227 Bangstad syndrome
1228 Banki syndrome
1229 Congenital intrauterine infection-like syndrome
1231 Barber-Say syndrome
1234 Bartsocas-Papas syndrome
1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
1237 Beemer-Ertbruggen syndrome
1241 Bencze syndrome
1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome
1248 Maxillonasal dysplasia
1252 Blepharonasofacial malformation syndrome
1253 Ascher syndrome
1256 Blepharophimosis-radioulnar synostosis syndrome
126 Blepharophimosis-epicanthus inversus-ptosis syndrome
1261 Bonnemann-Meinecke-Reich syndrome
1262 Böök syndrome
1264 Tricho-retino-dento-digital syndrome
127 Borjeson-Forssman-Lehmann syndrome
1270 Bowen-Conradi syndrome
1272 Fine-Lubinsky syndrome
1275 Brachydactyly-elbow wrist dysplasia syndrome
1276 Brachydactyly-arterial hypertension syndrome
1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
1278 Brachydactyly-preaxial hallux varus syndrome
1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
1295 Brachytelephalangy-dysmorphism-Kallmann syndrome
1296 Lambert syndrome
1297 Branchio-oculo-facial syndrome
1299 Branchioskeletogenital syndrome
1300 Autosomal dominant popliteal pterygium syndrome
1305 Feingold syndrome
1306 Buschke-Ollendorff syndrome
1307 Distal limb deficiencies-micrognathia syndrome
1308 C syndrome
1310 Caffey disease
1318 Campomelia, Cumming type
1319 Camptobrachydactyly
1325 Camptodactyly-taurinuria syndrome
1326 Camptodactyly syndrome, Guadalajara type 2
1327 Camptodactyly syndrome, Guadalajara type 1
1328 Camurati-Engelmann disease
1335 Pentalogy of Cantrell
1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
1340 Cardiofaciocutaneous syndrome
1342 Heart-hand syndrome type 3
1349 Maternally-inherited cardiomyopathy and hearing loss
1350 Heart-hand syndrome type 2
1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
1354 Heart defects-limb shortening syndrome
1355 Congenital heart defect-round face-developmental delay syndrome
1358 Carey-Fineman-Ziter syndrome
1373 Cataract-aberrant oral frenula-growth delay syndrome
1375 Cataract-hypertrichosis-intellectual disability syndrome
137605 Legius syndrome
137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome
137628 Cardiac anomalies-heterotaxy syndrome
137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
137653 Microcephaly-digital anomalies-intellectual disability syndrome
137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
137667 Capillary malformation-arteriovenous malformation
1377 Cataract-microcornea syndrome
137776 Lethal congenital contracture syndrome type 2
137783 Lethal congenital contracture syndrome type 3
137888 Auriculocondylar syndrome
137911 Autism-facial port-wine stain syndrome
137926 Primary laryngeal lymphangioma
137932 Congenital laryngeal palsy
138 CHARGE syndrome
1380 Cataract-nephropathy-encephalopathy syndrome
1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome
1383 Cataract-deafness-hypogonadism syndrome
1387 Cataract-intellectual disability-hypogonadism syndrome
1388 Catel-Manzke syndrome
1389 Cortical blindness-intellectual disability-polydactyly syndrome
1390 Night blindness-skeletal anomalies-dysmorphism syndrome
1393 Cerebrocostomandibular syndrome
1394 Cerebrofaciothoracic dysplasia
139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
139466 SERKAL syndrome
139471 Microphthalmia with brain and digit anomalies
139474 17q11.2 microduplication syndrome
1396 Cerebrorenodigital syndrome
1397 Hydrocephaly-cerebellar agenesis syndrome
1399 Richards-Rundle syndrome
140 Campomelic dysplasia
1406 Charlie M syndrome
1408 Hair defect-photosensitivity-intellectual disability syndrome
1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
140908 Brachydactyly type B2
140917 Stapes ankylosis with broad thumbs and toes
140936 Lelis syndrome
140944 CLOVES syndrome
140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
140963 Bilateral microtia-deafness-cleft palate syndrome
141000 Orofaciodigital syndrome type 11
141007 Orofaciodigital syndrome type 9
141091 Polyrrhinia
141096 Supernumerary nostril
141099 Proboscis lateralis
141121 Congenital subglottic stenosis
141124 Congenital laryngeal cyst
141136 Hemifacial microsomia
141145 Hemifacial hypertrophy
141148 Hemifacial myohyperplasia
141163 Glossopalatine ankylosis
141168 Frontonasal arteriovenous malformation
141171 Maxillary arteriovenous malformation
141174 Mandibular arteriovenous malformation
141194 Cerebrofacial arteriovenous metameric syndrome type 1
141199 Cerebrofacial arteriovenous metameric syndrome type 3
1412 Tarsal-carpal coalition syndrome
141209 Diffuse lymphatic malformation
141214 Isolated congenital syngnathia
141327 Orofaciodigital syndrome type 12
141330 Orofaciodigital syndrome type 13
1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome
1422 Chondrodysplasia-disorder of sex development syndrome
1423 Lethal recessive chondrodysplasia
1433 Choroidal atrophy-alopecia syndrome
1435 Choroideremia-deafness-obesity syndrome
1436 X-linked skeletal dysplasia-intellectual disability syndrome
1437 Ring chromosome 1 syndrome
1438 Ring chromosome 10 syndrome
1439 Ring chromosome 12 syndrome
1440 Ring chromosome 14 syndrome
1441 Ring chromosome 17 syndrome
1442 Ring chromosome 18 syndrome
1443 Ring chromosome 19 syndrome
1444 Ring chromosome 20 syndrome
1445 Ring chromosome 21 syndrome
1446 Ring chromosome 22 syndrome
1447 Ring chromosome 4 syndrome
1448 Ring chromosome 6 syndrome
1449 Ring chromosome 7 syndrome
1450 Ring chromosome 8 syndrome
1452 Cleidocranial dysplasia
1453 Cleidorhizomelic syndrome
1458 CODAS syndrome
1465 Coffin-Siris syndrome
1471 Coloboma of macula-brachydactyly type B syndrome
1473 Uveal coloboma-cleft lip and palate-intellectual disability
1475 Renal coloboma syndrome
1479 Atrial septal defect-atrioventricular conduction defects syndrome
1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome
1485 Arthrogryposis-hyperkeratosis syndrome, lethal form
1486 Lethal congenital contracture syndrome type 1
1487 Cooks syndrome
1488 Cooper-Jabs syndrome
1490 Corneal dystrophy-perceptive deafness syndrome
1492 Corpus callosum agenesis-double urinary collecting system syndrome
1493 Vici syndrome
1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
1506 Thin ribs-tubular bones-dysmorphism syndrome
1508 Coxoauricular syndrome
1512 Crane-Heise syndrome
1513 Craniodiaphyseal dysplasia
1514 Craniodigital-intellectual disability syndrome
1515 Cranioectodermal dysplasia
1516 Craniofacial dyssynostosis
1517 Hypertrichotic osteochondrodysplasia, Cantu type
1519 Hypertelorism, Teebi type
1520 Craniofrontonasal dysplasia
1521 Craniofrontonasal dysplasia-Poland anomaly syndrome
1522 Craniometaphyseal dysplasia
1524 Craniomicromelic syndrome
1525 Cranio-osteoarthropathy
1527 Craniosynostosis, Philadelphia type
1528 Craniotelencephalic dysplasia
1529 Craniofacial-deafness-hand syndrome
1530 Craniosynostosis-cataract syndrome
1532 Gómez-López-Hernández syndrome
1533 Craniosynostosis-fibular aplasia syndrome
1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
1540 Jackson-Weiss syndrome
1541 Craniosynostosis, Boston type
1545 Crisponi syndrome
1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
1552 Currarino triad
1553 Curry-Jones syndrome
1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
1556 Cutis marmorata telangiectatica congenita
1562 Dacryocystitis-osteopoikilosis syndrome
1563 Dahlberg-Borer-Newcomer syndrome
1566 Dandy-Walker malformation-postaxial polydactyly syndrome
1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
1571 Knobloch syndrome
1573 Hypotrichosis with juvenile macular degeneration
1574 Retinal degeneration-nanophthalmos-glaucoma syndrome
157832 Craniorhiny
157962 Oculoauricular syndrome, Schorderet type
1580 Distal monosomy 10p
1581 Non-distal monosomy 10q
1587 Monosomy 13q14
1590 Distal monosomy 13q
1596 Distal monosomy 15q
1597 Distal monosomy 17q
1600 Monosomy 18q
1606 1p36 deletion syndrome
1617 2q24 microdeletion syndrome
162 Cataract-glaucoma syndrome
1620 Distal monosomy 3p
1621 3q13 microdeletion syndrome
162516 Isolated congenital nasal pyriform aperture stenosis
162521 Congenital nasal pyriform aperture stenosis with holoprosencephaly
1627 Deletion 5q35
1636 Distal monosomy 7q36
163668 Spondyloepiphyseal dysplasia, MacDermot type
163976 X-linked intellectual disability, Van Esch type
163988 Developmental delay-deafness syndrome, Hildebrand type
1642 Distal monosomy 9p
1643 Xp22.3 microdeletion syndrome
1646 Partial chromosome Y deletion
1647 Oculocerebrocutaneous syndrome
1654 Natal teeth-intestinal pseudoobstruction-patent ductus syndrome
1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
1657 Dermatoosteolysis, Kirghizian type
1660 Dermo-odonto dysplasia
166063 Pontocerebellar hypoplasia type 4
166068 Pontocerebellar hypoplasia type 5
166073 Pontocerebellar hypoplasia type 6
166100 Stickler syndrome type 3
166272 Odontochondrodysplasia
166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
1665 Sporadic fetal brain disruption sequence
1682 Arterial dissection-lentiginosis syndrome
168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
168569 H syndrome
168572 Native American myopathy
168588 Hyperandrogenism due to cortisone reductase deficiency
168593 Sudden infant death-dysgenesis of the testes syndrome
168624 Familial scaphocephaly syndrome, McGillivray type
168796 Heart-hand syndrome, Slovenian type
168984 CLAPO syndrome
1692 Mosaic trisomy 1
1695 Non-distal trisomy 10q
1698 Mosaic trisomy 12
1699 Trisomy 12p
1702 Non-distal trisomy 13q
1703 Mosaic trisomy 14
1705 Distal trisomy 14q
1706 Mosaic trisomy 15
1708 Mosaic trisomy 16
1711 Mosaic trisomy 17
1713 17p11.2 microduplication syndrome
1715 Trisomy 18p
1716 Distal trisomy 18q
171680 Lissencephaly due to TUBA1A mutation
1717 Distal trisomy 19q
171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
171719 Cutis laxa-Marfanoid syndrome
171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
171844 Blindness-scoliosis-arachnodactyly syndrome
171929 Trisomy 10p
1723 Mosaic trisomy 2
1724 Mosaic trisomy 20
1727 22q11.2 microduplication syndrome
1738 Trisomy 4p
1742 Trisomy 5p
1745 Distal trisomy 6p
1747 Mosaic trisomy 7
1752 Trisomy 8q
1756 Caudal duplication
1757 Fibular dimelia-diplopodia syndrome
1759 Thoraco-abdominal enteric duplication
1762 Trisomy Xq28
1765 Dyschondrosteosis-nephritis syndrome
1768 Familial caudal dysgenesis
1770 XY type gonadal dysgenesis-associated anomalies syndrome
1772 45,X/46,XY mixed gonadal dysgenesis
1777 Temtamy syndrome
1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
1779 Dysmorphism-cleft palate-loose skin syndrome
1780 Thakker-Donnai syndrome
1782 Dysosteosclerosis
178303 8q22.1 microdeletion syndrome
178364 Syndromic microphthalmia type 5
178377 Osteosclerosis-developmental delay-craniosynostosis syndrome
1784 Acrofrontofacionasal dysostosis
1786 Acrofacial dysostosis, Catania type
1787 Acrofacial dysostosis, Palagonia type
1788 Acrofacial dysostosis, Rodríguez type
1790 Hypomandibular faciocranial dysostosis
1791 Frontofacionasal dysplasia
1794 Oculomaxillofacial dysostosis
1795 Peripheral dysostosis
1797 Autosomal dominant spondylocostal dysostosis
1798 Dysostosis, Stanescu type
1801 Kyphomelic dysplasia
1802 Ghosal hematodiaphyseal dysplasia
1804 Dyssegmental dysplasia-glaucoma syndrome
1806 Ectodermal dysplasia-blindness syndrome
1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type
1809 Hidrotic ectodermal dysplasia, Halal type
1811 Odontomicronychial dysplasia
1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
1818 Ectodermal dysplasia, trichoodontoonychial type
1819 Epimetaphyseal skeletal dysplasia
1822 Dysplasia epiphysealis hemimelica
1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
1827 Acromelic frontonasal dysplasia
1832 Lethal osteosclerotic bone dysplasia
1834 Axial mesodermal dysplasia spectrum
1836 Mesomelic dysplasia, Kantaputra type
1839 Hereditary mucoepithelial dysplasia
184 Cherubism
1842 Bone dysplasia, lethal Holmgren type
1849 Infundibulopelvic stenosis-multicystic kidney syndrome
185 Scimitar syndrome
1855 Spondyloenchondrodysplasia
1858 Skeletal dysplasia-epilepsy-short stature syndrome
1861 Thoracic dysplasia-hydrocephalus syndrome
1873 Jalili syndrome
1879 Melorheostosis with osteopoikilosis
1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
1883 Ectodermal dysplasia-sensorineural deafness syndrome
1885 Isolated ectopia lentis
1891 Intellectual disability-spasticity-ectrodactyly syndrome
1892 Ectrodactyly-polydactyly syndrome
1895 Edinburgh malformation syndrome
1896 EEC syndrome
1897 EEM syndrome
1906 Fetal valproate syndrome
1908 Aminopterin/methotrexate embryofetopathy
1909 Indomethacin embryofetopathy
1910 Fetal iodine syndrome
1911 Cocaine embryofetopathy
1912 Fetal hydantoin syndrome
1913 Fetal trimethadione syndrome
1914 Vitamin K antagonist embryofetopathy
1915 Fetal alcohol syndrome
1917 Fetal methylmercury syndrome
1918 Fetal minoxidil syndrome
1919 Phenobarbital embryopathy
192 Coffin-Lowry syndrome
1920 Toluene embryopathy
1923 Methimazole embryofetopathy
1926 Diabetic embryopathy
1927 Emery-Nelson syndrome
193 Cohen syndrome
1937 Eng-Strom syndrome
1946 Amelocerebrohypohidrotic syndrome
1948 Epilepsy-microcephaly-skeletal dysplasia syndrome
195 Cat-eye syndrome
1952 Pacman dysplasia
1962 Exostoses-anetodermia-brachydactyly type E syndrome
1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
1968 Flat face-microstomia-ear anomaly syndrome
1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
1972 Lethal faciocardiomelic dysplasia
1973 Faciocardiorenal syndrome
1974 Autosomal recessive faciodigitogenital syndrome
1986 Gollop-Wolfgang complex
1987 Femoral agenesis/hypoplasia
1988 Femoral-facial syndrome
199 Cornelia de Lange syndrome
1993 Pai syndrome
199310 Tetragametic chimerism
199315 Familial clubfoot with or without associated lower limb anomalies
199318 15q13.3 microdeletion syndrome
199332 Endocrine-cerebro-osteodysplasia syndrome
1995 Cleft lip-retinopathy syndrome
199642 Isolated congenital microcephaly
1997 Blepharo-cheilo-odontic syndrome
2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
2003 Cleft lip/palate-deafness-sacral lipoma syndrome
2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome
2008 Acrocardiofacial syndrome
2010 Cleft palate-stapes fixation-oligodontia syndrome
2013 Cleft palate-large ears-small head syndrome
2015 Cleft palate-short stature-vertebral anomalies syndrome
2016 Cleft palate-lateral synechia syndrome
2019 Femur-fibula-ulna complex
2024 Hereditary gingival fibromatosis
2025 Gingival fibromatosis-facial dysmorphism syndrome
2026 Gingival fibromatosis-hypertrichosis syndrome
2027 Gingival fibromatosis-progressive deafness syndrome
2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
2036 Scalp-ear-nipple syndrome
2042 Tracheo-esophageal fistula-hypospadias syndrome
2044 Floating-Harbor syndrome
2050 Cole-Carpenter syndrome
2052 Fraser syndrome
2053 Freeman-Sheldon syndrome
2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
2059 Fryns syndrome
2062 Progressive non-infectious anterior vertebral fusion
2063 Splenogonadal fusion-limb defects-micrognathia syndrome
2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
2065 Galloway-Mowat syndrome
2067 GAPO syndrome
207 Crouzon disease
2074 Gemignani syndrome
2075 Genitopalatocardiac syndrome
2077 German syndrome
2078 Geroderma osteodysplastica
2081 Cerebral gigantism-jaw cysts syndrome
2083 Prominent glabella-microcephaly-hypogenitalism syndrome
2084 Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
2090 GMS syndrome
2091 Multinodular goiter-cystic kidney-polydactyly syndrome
2092 Focal dermal hypoplasia
2095 Gorlin-Chaudhry-Moss syndrome
2097 Grant syndrome
2098 Acromesomelic dysplasia, Grebe type
2101 Grubben-de Cock-Borghgraef syndrome
210110 Intermediate osteopetrosis
210144 Lethal polymalformative syndrome, Boissel type
2104 Dysmorphism-pectus carinatum-joint laxity syndrome
2107 Hall-Riggs syndrome
2108 Hallermann-Streiff syndrome
2110 Hallux varus-preaxial polysyndactyly syndrome
2115 Harrod syndrome
2117 Hartsfield syndrome
2119 HEC syndrome
2123 Diffuse neonatal hemangiomatosis
2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
2135 Hennekam-Beemer syndrome
2136 Hennekam syndrome
2138 46,XX ovotesticular disorder of sex development
2139 Hernández-Aguirre Negrete syndrome
2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
2143 Donnai-Barrow syndrome
2145 Craniosynostosis, Herrmann-Opitz type
2150 Hirschsprung disease-type D brachydactyly syndrome
2151 Hirschsprung disease-ganglioneuroblastoma syndrome
2152 Mowat-Wilson syndrome
2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
2155 Hirschsprung disease-deafness-polydactyly syndrome
2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome
2162 Holoprosencephaly
2163 Holoprosencephaly-craniosynostosis syndrome
2165 Holoprosencephaly-caudal dysgenesis syndrome
2166 Holoprosencephaly-postaxial polydactyly syndrome
2167 Holzgreve syndrome
217008 Bockenheimer syndrome
217017 Zechi-Ceide syndrome
217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
217266 BNAR syndrome
217335 RIN2 syndrome
217340 17q21.31 microduplication syndrome
217346 19q13.11 microdeletion syndrome
217377 Microduplication Xp11.22-p11.23 syndrome
217385 17p13.3 microduplication syndrome
2177 Hydranencephaly
2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
2181 Hydrocephaly-tall stature-joint laxity syndrome
2183 Hydrocephalus-obesity-hypogonadism syndrome
2185 Congenital hydrocephalus
2186 Hydrocephalus-blue sclerae-nephropathy syndrome
2189 Hydrolethalus
2204 Dysplastic cortical hyperostosis
2206 Ankylosing vertebral hyperostosis with tylosis
2209 Maternal phenylketonuria
221054 Acrocephalopolydactyly
221061 Familial cerebral cavernous malformation
2211 Hypertelorism-hypospadias-polysyndactyly syndrome
221120 Pseudoaminopterin syndrome
221126 Fowler syndrome
221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
2213 Hypertelorism-microtia-facial clefting syndrome
2215 Multiple pterygium-malignant hyperthermia syndrome
2216 Maternal hyperthermia induced birth defects
2220 Hypertrichosis cubiti
2228 Hypodontia-dysplasia of nails syndrome
2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
2237 Hypoparathyroidism-deafness-renal disease syndrome
2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome
2249 Ulna hypoplasia-intellectual disability syndrome
2251 Thumb deformity-alopecia-pigmentation anomaly syndrome
2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
2254 Pontocerebellar hypoplasia type 1
2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
2257 Primary pulmonary hypoplasia
2261 Hypospadias-intellectual disability, Goldblatt type syndrome
2268 ICF syndrome
2272 Ichthyosis-oral and digital anomalies syndrome
2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
228384 5q14.3 microdeletion syndrome
228390 Frontonasal dysplasia with alopecia and genital anomaly
228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
228399 8q12 microduplication syndrome
228402 2q23.1 microdeletion syndrome
228410 Polyvalvular heart disease syndrome
228415 5q35 microduplication syndrome
2291 Congenital velopharyngeal incompetence
2292 Congenital bowing of long bones
2305 Isotretinoin syndrome
2306 Isotretinoin-like syndrome
2307 IVIC syndrome
2308 Jacobsen syndrome
2310 Absence deformity of leg-cataract syndrome
2311 Autosomal recessive spondylocostal dysostosis
2315 Johanson-Blizzard syndrome
2316 Johnson neuroectodermal syndrome
231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
2319 Juberg-Hayward syndrome
2322 Kabuki syndrome
2323 Sanjad-Sakati syndrome
2324 Osteopenia-intellectual disability-sparse hair syndrome
2325 Epidermolysis bullosa simplex with anodontia/hypodontia
2326 Kallmann syndrome-heart disease syndrome
2328 Kapur-Toriello syndrome
2329 Karsch-Neugebauer syndrome
233 Duane retraction syndrome
2332 KBG syndrome
2333 Kenny-Caffey syndrome
2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome
2345 Isolated Klippel-Feil syndrome
2347 Lethal Kniest-like dysplasia
235 Dubowitz syndrome
2351 Kousseff syndrome
2353 Schilbach-Rott syndrome
236 Trisomy 9p
2363 Lacrimoauriculodentodigital syndrome
2369 Limb body wall complex
2370 Larsen-like osseous dysplasia-short stature syndrome
2371 Lethal Larsen-like syndrome
2372 Laryngocele
2373 Congenital laryngomalacia
2374 Congenital laryngeal web
2375 Laryngeal abductor paralysis-intellectual disability syndrome
2377 Laurence-Moon syndrome
2378 Laurin-Sandrow syndrome
238446 15q11q13 microduplication syndrome
238744 Mammary-digital-nail syndrome
238750 4q21 microdeletion syndrome
238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
238766 Ptosis-syndactyly-learning difficulties syndrome
238769 1q44 microdeletion syndrome
2391 Congenitally short costocoracoid ligament
2399 Nasopalpebral lipoma-coloboma syndrome
240 Léri-Weill dyschondrosteosis
2405 Thickened earlobes-conductive deafness syndrome
240760 Nijmegen breakage syndrome-like disorder
2408 Lowe-Kohn-Cohen syndrome
2409 Lowry-MacLean syndrome
2410 Hypergonadotropic hypogonadism-cataract syndrome
2412 Dislocation of the hip-dysmorphism syndrome
242 46,XY complete gonadal dysgenesis
2427 Macrocephaly-short stature-paraplegia syndrome
2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome
243 46,XX gonadal dysgenesis
2430 Congenital macroglossia
2432 Macrosomia-microphthalmia-cleft palate syndrome
2437 Czeizel-Losonci syndrome
2438 Hand-foot-genital syndrome
2439 Patterson-Stevenson-Fontaine syndrome
2440 Split hand-split foot malformation
244283 Biliary atresia with splenic malformation syndrome
2444 Congenital pulmonary airway malformation
245 Nager syndrome
2451 Mucocutaneous venous malformations
2454 Familial intestinal malrotation-facial anomalies syndrome
2457 Mandibuloacral dysplasia
246 Postaxial acrofacial dysostosis
2460 Van den Ende-Gupta syndrome
2461 Marden-Walker syndrome
2462 Shprintzen-Goldberg syndrome
2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
2464 Marfanoid syndrome, De Silva type
2470 Matthew-Wood syndrome
2471 McDonough syndrome
2473 McKusick-Kaufman syndrome
2475 White forelock with malformations
2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome
2477 Megalencephaly
247768 Müllerian aplasia and hyperandrogenism
247820 Ectodermal dysplasia-syndactyly syndrome
247827 Ectodermal dysplasia-cutaneous syndactyly syndrome
2479 Megalocornea-intellectual disability syndrome
2482 Melhem-Fahl syndrome
2483 Melkersson-Rosenthal syndrome
2484 Melnick-Needles syndrome
2485 Melorheostosis
2487 Lower limb deficiency-hypospadias syndrome
2489 Upper limb defect-eye and ear abnormalities syndrome
249 Fibrous dysplasia of bone
2491 Müllerian duct anomalies-limb anomalies syndrome
2496 Mesomelia-synostoses syndrome
2497 Upper limb mesomelic dysplasia
2499 Metachondromatosis
2500 Acrogeria
2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
2508 Corpus callosum agenesis-abnormal genitalia syndrome
250972 Polymicrogyria with optic nerve hypoplasia
250989 1q21.1 microdeletion syndrome
250994 1q21.1 microduplication syndrome
250999 1q41q42 microdeletion syndrome
2510 Micro syndrome
251004 Paternal uniparental disomy of chromosome 1
251009 Maternal uniparental disomy of chromosome 1
251014 2q31.1 microdeletion syndrome
251019 2q32q33 microdeletion syndrome
251028 2q33.1 microdeletion syndrome
251038 3q29 microduplication syndrome
251043 Ring chromosome 5 syndrome
251046 6p22 microdeletion syndrome
251056 6q25 microdeletion syndrome
251061 7q31 microdeletion syndrome
251066 8p11.2 deletion syndrome
251071 8p23.1 microdeletion syndrome
251076 8p23.1 duplication syndrome
2511 Microbrachycephaly-ptosis-cleft lip syndrome
251290 Parietal foramina with clavicular hypoplasia
2513 Microcephaly-albinism-digital anomalies syndrome
251383 CK syndrome
2515 Microcephaly-cardiomyopathy syndrome
251510 46,XY partial gonadal dysgenesis
251515 Distal arthrogryposis type 10
2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
2518 Autosomal recessive chorioretinopathy-microcephaly syndrome
2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
2521 Microcephaly-cleft palate syndrome
2522 Microcephaly-cervical spine fusion anomalies syndrome
2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome
2524 Pontocerebellar hypoplasia type 2
2526 Microcephaly-lymphedema-chorioretinopathy syndrome
2528 Microcephaly-microcornea syndrome, Seemanova type
2533 Microcephaly-deafness-intellectual disability syndrome
2535 Microcornea-corectopia-macular hypoplasia syndrome
2536 Microcornea-glaucoma-absent frontal sinuses syndrome
2538 Microgastria-limb reduction defect syndrome
254346 19p13.12 microdeletion syndrome
254351 Distal 7q11.23 microdeletion syndrome
254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect
254519 Kagami-Ogata syndrome
2549 Oculoauriculovertebral spectrum with radial defects
2551 Microspherophakia-metaphyseal dysplasia syndrome
2554 Ear-patella-short stature syndrome
2556 Microphthalmia with linear skin defects syndrome
2557 Mietens syndrome
2558 Mikati-Najjar-Sahli syndrome
2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
2561 Pyramidal molar-glaucoma-upper abnormal lip syndrome
2563 MOMO syndrome
2564 Tetramelic monodactyly
2565 Mononen-Karnes-Senac syndrome
2570 Holoprosencephaly-hypokinesia-congenital contractures syndrome
2574 Moynahan syndrome
2576 MULIBREY nanism
258 Congenital muscular dystrophy type 1A
2580 Shoulder and girdle defects-familial intellectual disability syndrome
2582 Myalgia-eosinophilia syndrome associated with tryptophan
2585 Ataxia-pancytopenia syndrome
2588 Myhre syndrome
2589 Myoclonus-cerebellar ataxia-deafness syndrome
2601 Myopathy-growth delay-intellectual disability-hypospadias syndrome
2608 N syndrome
261102 Distal 7q11.23 microduplication syndrome
261112 Monosomy 9p
261120 14q11.2 microdeletion syndrome
261144 14q12 microdeletion syndrome
261183 15q11.2 microdeletion syndrome
261190 15q14 microdeletion syndrome
261197 Proximal 16p11.2 microdeletion syndrome
261204 16p11.2p12.2 microduplication syndrome
261211 16p11.2p12.2 microdeletion syndrome
261222 Distal 16p11.2 microdeletion syndrome
261229 14q11.2 microduplication syndrome
261236 16p13.11 microdeletion syndrome
261243 16p13.11 microduplication syndrome
261250 16q24.3 microdeletion syndrome
261257 Distal 17p13.3 microdeletion syndrome
261265 17q12 microdeletion syndrome
261272 17q12 microduplication syndrome
261279 17q23.1q23.2 microdeletion syndrome
261290 Trisomy 17p
261295 20p12.3 microdeletion syndrome
261304 Paternal 20q13.2q13.3 microdeletion syndrome
261311 20q13.33 microdeletion syndrome
261318 Trisomy 20p
261323 21q22.11q22.12 microdeletion syndrome
261330 Distal 22q11.2 microdeletion syndrome
261337 Distal 22q11.2 microduplication syndrome
261344 Trisomy 1q
261349 2p15p16.1 microdeletion syndrome
2614 Nail-patella syndrome
261483 Xq27.3q28 duplication syndrome
261494 Kleefstra syndrome
261501 Atypical Norrie disease due to monosomy Xp11.3
261519 Maternal uniparental disomy of chromosome X
261524 Paternal uniparental disomy of chromosome X
261529 Ring chromosome Y syndrome
261534 49,XXXYY syndrome
2616 3M syndrome
2617 Bird headed-dwarfism, Montreal type
2623 Geleophysic dysplasia
2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome
2632 Langer mesomelic dysplasia
2633 Mesomelic dwarfism, Nievergelt type
2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type
2636 Microcephalic osteodysplastic primordial dwarfism types I and III
2637 Microcephalic osteodysplastic primordial dwarfism type II
2639 Fibular aplasia-complex brachydactyly syndrome
264200 14q22q23 microdeletion syndrome
2643 Microcephalic primordial dwarfism, Toriello type
264450 Trisomy 8p
2645 Osteoglophonic dwarfism
2646 Parastremmatic dwarfism
2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
2658 Lenz-Majewski hyperostotic dwarfism
2662 Keipert syndrome
2663 Nathalie syndrome
2668 Nephropathy-deafness-hyperparathyroidism syndrome
2669 Nephrosis-deafness-urinary tract-digital malformations syndrome
2670 Pierson syndrome
2671 Neu-Laxova syndrome
2673 Neurofaciodigitorenal syndrome
2674 Cyprus facial-neuromusculoskeletal syndrome
2676 Neuroectodermal-endocrine syndrome
2678 Neurofibromatosis type 6
2680 Hypomyelination neuropathy-arthrogryposis syndrome
2695 Bifid nose
2697 Arthrogryposis-renal dysfunction-cholestasis syndrome
2699 Median nodule of the upper lip
2701 Noonan syndrome-like disorder with loose anagen hair
2704 Ochoa syndrome
2707 Oculocerebrofacial syndrome, Kaufman type
2709 Oculodental syndrome, Rutherfurd type
2710 Oculodentodigital dysplasia
2712 Oculofaciocardiodental syndrome
2713 Oculoosteocutaneous syndrome
2714 Oculo-palato-cerebral syndrome
2716 Oculo-skeletal-renal syndrome
2717 Oculotrichoanal syndrome
2718 Oculotrichodysplasia
2719 Oculocerebral hypopigmentation syndrome, Cross type
2722 Odonto-onycho dysplasia-alopecia syndrome
2723 Odontotrichomelic syndrome
2724 Odontomatosis-aortae esophagus stenosis syndrome
2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
2729 Okamoto syndrome
2730 Postaxial tetramelic oligodactyly
2731 Taurodontia-absent teeth-sparse hair syndrome
2732 Olivopontocerebellar atrophy-deafness syndrome
2733 Omodysplasia
2736 Lethal omphalocele-cleft palate syndrome
2741 Ophthalmomandibulomelic dysplasia
2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
2745 Opitz G/BBB syndrome
2750 Orofaciodigital syndrome type 1
2751 Orofaciodigital syndrome type 2
2752 Orofaciodigital syndrome type 3
2753 Orofaciodigital syndrome type 4
2755 Orofaciodigital syndrome type 8
275543 L1 syndrome
2756 Orofaciodigital syndrome type 10
2759 Imperforate oropharynx-costo vetebral anomalies syndrome
2760 OSLAM syndrome
2762 Progressive osseous heteroplasia
276280 Hemihyperplasia-multiple lipomatosis syndrome
2763 Osteocraniostenosis
276413 10q22.3q23.3 microdeletion syndrome
276422 10q22.3q23.3 microduplication syndrome
276432 Ogden syndrome
276630 Symptomatic form of Coffin-Lowry syndrome in female carriers
2767 Carpotarsal osteochondromatosis
2768 Blount disease
2769 Familial osteodysplasia, Anderson type
2770 Nasu-Hakola disease
2771 Bruck syndrome
2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
2776 Autosomal recessive distal osteolysis syndrome
2777 Osteomesopyknosis
2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome
2780 Osteopathia striata-cranial sclerosis syndrome
2783 Autosomal dominant osteopetrosis type 1
2786 Osteoporosis-oculocutaneous hypopigmentation syndrome
2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
2789 Lateral meningocele syndrome
2790 Autosomal dominant osteosclerosis, Worth type
2791 Otodental syndrome
2792 Otofaciocervical syndrome
2793 Otoonychoperoneal syndrome
2796 Pachydermoperiostosis
2798 Pachygyria-intellectual disability-epilepsy syndrome
280 Wolf-Hirschhorn syndrome
2801 Juvenile Paget disease
280200 Microform holoprosencephaly
280325 Distal monosomy 12p
2804 W syndrome
280403 Familial omphalocele syndrome with facial dysmorphism
280558 Warsaw breakage syndrome
280576 Nestor-Guillermo progeria syndrome
280586 Chondrodysplasia with joint dislocations, gPAPP type
280633 Multiple congenital anomalies-hypotonia-seizures syndrome
280640 Occipital pachygyria and polymicrogyria
2808 Laryngeal abductor paralysis
281 Monosomy 5p
2815 Spastic paraparesis-deafness syndrome
2819 Spastic paraplegia-facial-cutaneous lesions syndrome
2823 Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
2824 Paraplegia-intellectual disability-hyperkeratosis syndrome
2825 PARC syndrome
2831 Rhizomelic dysplasia, Patterson-Lowry type
2832 Short tarsus-absence of lower eyelashes syndrome
2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome
2838 Renal caliceal diverticuli-deafness syndrome
2839 Pelvis-shoulder dysplasia
2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome
284139 Larsen-like syndrome, B3GAT3 type
284149 Craniosynostosis and dental anomalies
284160 8q21.11 microdeletion syndrome
284180 Xp22.13p22.2 duplication syndrome
284247 Familial retinal arterial macroaneurysm
284339 Pontocerebellar hypoplasia type 7
2847 Pericardial and diaphragmatic defect
2849 Perlman syndrome
2854 Fuhrmann syndrome
2856 Persistent Müllerian duct syndrome
2863 Short stature-wormian bones-dextrocardia syndrome
2865 Short stature-webbed neck-heart disease syndrome
2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
2867 Short stature, Brussels type
2868 Short stature-valvular heart disease-characteristic facies syndrome
2871 Pfeiffer-Palm-Teller syndrome
2872 Cardiocranial syndrome, Pfeiffer type
2874 Phakomatosis pigmentokeratotica
2876 PHAVER syndrome
2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
2879 Phocomelia, Schinzel type
2885 Piebald trait-neurologic defects syndrome
2886 TARP syndrome
2888 Pierre Robin syndrome-faciodigital anomaly syndrome
289 Ellis Van Creveld syndrome
2890 Pili torti-onychodysplasia syndrome
2891 Pili torti-developmental delay-neurological abnormalities syndrome
2892 Pilodental dysplasia-refractive errors syndrome
289365 Familial vesicoureteral reflux
2894 Pilotto syndrome
289499 Congenital cataract microcornea with corneal opacity
289513 12q15q21.1 microdeletion syndrome
289522 Microtriplication 11q24.1
289553 Dysmorphism-conductive hearing loss-heart defect syndrome
2896 Pitt-Hopkins syndrome
2898 X-linked intellectual disability-plagiocephaly syndrome
2899 Brachyolmia-amelogenesis imperfecta syndrome
2900 Leri pleonosteosis
2911 Poland syndrome
2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
2917 Polydactyly-myopia syndrome
2919 Orofaciodigital syndrome type 5
2920 Oliver syndrome
2921 Preaxial polydactyly-colobomata-intellectual disability syndrome
2924 Isolated polycystic liver disease
2925 Polymicrogyria-turricephaly-hypogenitalism syndrome
2926 Digital extensor muscle aplasia-polyneuropathy
2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
2934 Polysyndactyly-cardiac malformation syndrome
2935 Crossed polysyndactyly
293707 Blepharophimosis-intellectual disability syndrome, MKB type
293725 Blepharophimosis-intellectual disability syndrome, Verloes type
293843 3MC syndrome
293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
293925 Lethal occipital encephalocele-skeletal dysplasia syndrome
293939 Distal Xq28 microduplication syndrome
293948 1p21.3 microdeletion syndrome
293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
294016 Microcephaly-capillary malformation syndrome
294026 2q31.1 microduplication syndrome
2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome
294415 Renal-hepatic-pancreatic dysplasia
2946 Brachydactyly-long thumb syndrome
2947 Triphalangeal thumbs-brachyectrodactyly syndrome
295 Fetal parvovirus syndrome
2950 Triphalangeal thumb-polysyndactyly syndrome
295000 Constriction rings syndrome
2951 Absent thumb-short stature-immunodeficiency syndrome
2952 Adducted thumbs-arthrogryposis syndrome, Christian type
2956 Prata-Liberal-Goncalves syndrome
2957 Guttmacher syndrome
2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
2959 Progeria-short stature-pigmented nevi syndrome
2963 Progeroid syndrome, Petty type
2964 Autosomal dominant prognathism
2970 Prune belly syndrome
2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
2973 46,XX disorder of sex development-anorectal anomalies syndrome
2975 46,XX disorder of sex development-skeletal anomalies syndrome
2976 Pseudoleprechaunism syndrome, Patterson type
2980 Acrootoocular syndrome
2985 Pseudoprogeria syndrome
2987 Antecubital pterygium syndrome
2988 Pterygium colli-intellectual disability-digital anomalies syndrome
2990 Autosomal recessive multiple pterygium syndrome
2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
2995 Baraitser-Winter cerebrofrontofacial syndrome
2997 Ptosis-vocal cord paralysis syndrome
2999 Ptosis-strabismus-ectopic pupils syndrome
3003 Pyknoachondrogenesis
300305 11p15.4 microduplication syndrome
3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2
300573 Polymicrogyria due to TUBB2B mutation
3015 Radio-renal syndrome
3016 Absent radius-anogenital anomalies syndrome
3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
3019 Ramon syndrome
3021 RAPADILINO syndrome
3023 External auditory canal atresia-vertical talus-hypertelorism syndrome
3026 Radial ray hypoplasia-choanal atresia syndrome
3027 Caudal regression sequence
3032 NPHP3-related Meckel-like syndrome
3033 Renal tubular dysgenesis
3034 Delayed membranous cranial ossification
3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
3041 Intellectual disability-balding-patella luxation-acromicria syndrome
3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
3051 Intellectual disability-sparse hair-brachydactyly syndrome
3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome
3067 Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
3071 Costello syndrome
3074 Intellectual disability-short stature-hypertelorism syndrome
3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
3078 Severe X-linked intellectual disability, Gustavson type
3079 Intellectual disability, Buenos-Aires type
308 Unverricht-Lundborg disease
3080 Intellectual disability, Wolff type
3082 Intellectual disability-polydactyly-uncombable hair syndrome
3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
3087 Retinohepatoendocrinologic syndrome
3088 Revesz syndrome
3097 Meacham syndrome
3098 Rhizomelic syndrome, Urbach type
3101 Richieri Costa-da Silva syndrome
3102 Richieri Costa-Pereira syndrome
3103 Roberts syndrome
3104 Robin sequence-oligodactyly syndrome
3105 Robinow-like syndrome
3109 Mayer-Rokitansky-Küster-Hauser syndrome
3121 Ruvalcaba syndrome
3132 Say-Barber-Miller syndrome
3133 Say-Field-Coldwell syndrome
3134 SCARF syndrome
3135 Familial Scheuermann disease
313781 20p13 microdeletion syndrome
313795 Jawad syndrome
3138 Ulnar-mammary syndrome
313884 12p12.1 microdeletion syndrome
313947 2q23.1 microduplication syndrome
314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
314034 7p22.1 microduplication syndrome
314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome
314389 Xq12-q13.3 duplication syndrome
3144 Schneckenbecken dysplasia
314432 Spigelian hernia-cryptorchidism syndrome
314555 Craniofacial dysplasia-osteopenia syndrome
314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
314585 15q overgrowth syndrome
314597 Chudley-McCullough syndrome
314679 Cerebrofacioarticular syndrome
314993 Cataract-congenital heart disease-neural tube defect syndrome
3152 Sclerosteosis
3157 Septo-optic dysplasia spectrum
3161 Congenital pulmonary sequestration
3163 SHORT syndrome
3164 Omphalocele syndrome, Shprintzen-Goldberg type
3167 Siegler-Brewer-Carey syndrome
3168 Sillence syndrome
3169 Sirenomelia
3172 Eyebrow duplication-syndactyly syndrome
3176 Spina bifida-hypospadias syndrome
3177 Corneal-cerebellar syndrome
3180 Spondylocamptodactyly syndrome
3184 Steatocystoma multiplex-natal teeth syndrome
3186 Holoprosencephaly-radial heart renal anomalies syndrome
3191 Subaortic stenosis-short stature syndrome
319171 Distal 17p13.1 microdeletion syndrome
319182 Wiedemann-Steiner syndrome
3194 Stern-Lubinsky-Durrie syndrome
319671 Microcephalic primordial dwarfism, Alazami type
319675 Microcephalic primordial dwarfism, Dauber type
3199 Stimmler syndrome
3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
3205 Sturge-Weber syndrome
3206 Stüve-Wiedemann syndrome
3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
3210 Summitt syndrome
3214 Deaf blind hypopigmentation syndrome, Yemenite type
3216 Conductive deafness-malformed external ear syndrome
3218 Deafness-epiphyseal dysplasia-short stature syndrome
3219 Fountain syndrome
322 Exstrophy-epispadias complex
3220 Deafness-enamel hypoplasia-nail defects syndrome
3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
3226 Deafness-lymphedema-leukemia syndrome
3230 Deafness-oligodontia syndrome
3232 Deafness-ear malformation-facial palsy syndrome
3233 Cochleosaccular degeneration-cataract syndrome
3235 Progressive deafness with stapes fixation
3236 Conductive deafness-ptosis-skeletal anomalies syndrome
3237 Multiple synostoses syndrome
3238 Cardiospondylocarpofacial syndrome
3239 Deafness-vitiligo-achalasia syndrome
3241 Deafness-craniofacial syndrome
3242 Renpenning syndrome
324313 9p13 microdeletion syndrome
324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
324569 Pontocerebellar hypoplasia type 8
3246 Symphalangism with multiple anomalies of hands and feet
324601 X-linked cleft palate and ankyloglossia
3250 Proximal symphalangism
3253 Zlotogora-Ogur syndrome
3255 Filippi syndrome
3258 Cenani-Lenz syndrome
3259 Syndactyly-polydactyly-ear lobe syndrome
3262 Dobrow syndrome
3263 Syngnathia-cleft palate syndrome
3268 Radioulnar synostosis-microcephaly-scoliosis syndrome
3270 Radioulnar synostosis-developmental delay-hypotonia syndrome
3275 Spondylocarpotarsal synostosis
3291 Teebi-Shaltout syndrome
3292 Tel Hashomer camptodactyly syndrome
329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
329228 Microcephalic primordial dwarfism due to ZNF335 deficiency
3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome
329329 Autosomal recessive frontotemporal pachygyria
329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
3294 Extensor tendons of finger anomalies
329802 5p13 microduplication syndrome
329813 Mosaic genome-wide paternal uniparental disomy
33001 Lymphedema-distichiasis syndrome
3301 Tetraamelia-multiple malformations syndrome
3303 Tetralogy of Fallot
3304 Fallot complex-intellectual disability-growth delay syndrome
3305 Tetraploidy
3306 Duplication/inversion 15q11
3307 Tetrasomy 18p
3309 Tetrasomy 5p
3310 Tetrasomy 9p
33108 Lethal multiple pterygium syndrome
3316 Thomas syndrome
3317 Thoracolaryngopelvic dysplasia
3320 Thrombocytopenia-absent radius syndrome
3323 Thrombocytopenia-Robin sequence syndrome
3326 Thymic-renal-anal-lung dysplasia
3327 Thyrocerebrorenal syndrome
3328 Absent tibia-polydactyly-arachnoid cyst syndrome
3329 Tibial aplasia-ectrodactyly syndrome
3338 Toriello-Carey syndrome
3339 Toriello-Lacassie-Droste syndrome
3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
3342 Arterial tortuosity syndrome
3344 Weismann-Netter syndrome
33445 Neuroectodermal melanolysosomal disease
3351 Trichodental syndrome
3352 Tricho-dento-osseous syndrome
3353 Trichodermodysplasia-dental alterations syndrome
3354 Tricho-oculo-dermo-vertebral syndrome
3355 Trichoodontoonychial dysplasia
3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly
3361 Trichodysplasia-xeroderma syndrome
3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
3365 Trigonocephaly-broad thumbs syndrome
3368 Trigonocephaly-bifid nose-acral anomalies syndrome
3369 Trigonocephaly-short stature-developmental delay syndrome
3375 Trisomy X
3376 Triploidy
3377 Trismus-pseudocamptodactyly syndrome
3378 Trisomy 13
3379 Distal trisomy 17q
3380 Trisomy 18
3383 Humerus trochlea aplasia
3404 Ulbright-Hodes syndrome
3405 Umbilical cord ulceration-intestinal atresia syndrome
3408 Upington disease
3409 Urban-Rogers-Meyer syndrome
3411 Double uterus-hemivagina-renal agenesis syndrome
3412 VACTERL with hydrocephalus
3416 Hyperostosis corticalis generalisata
3417 Van den Bosch syndrome
3424 Velo-facial-skeletal syndrome
3429 Verloove Vanhorick-Brubakk syndrome
3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
3434 MMEP syndrome
3439 Von Voss-Cherstvoy syndrome
3447 Weaver syndrome
3448 Weaver-Williams syndrome
3449 Weill-Marchesani syndrome
3450 Weissenbacher- Zweymuller syndrome
3454 Intellectual disability-developmental delay-contractures syndrome
3455 Wiedemann-Rautenstrauch syndrome
3456 Wildervanck syndrome
3459 Wilson-Turner syndrome
3465 Worster-Drought syndrome
3469 XK aprosencephaly syndrome
3472 Yunis-Varon syndrome
3473 Zimmermann-Laband syndrome
3474 CHIME syndrome
35612 Nanophthalmia
356947 3q26q27 microdeletion syndrome
357001 19p13.13 microdeletion syndrome
357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
36 Acrocallosal syndrome
363417 Temtamy preaxial brachydactyly syndrome
363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
363659 20q11.2 microduplication syndrome
36367 Distal monosomy 1q
363680 2p13.2 microdeletion syndrome
363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
369881 2p21 microdeletion syndrome without cystinuria
369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome
369920 Pontocerebellar hypoplasia type 9
369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
370079 Proximal 16p11.2 microduplication syndrome
373 Simpson-Golabi-Behmel syndrome
374 Goldenhar syndrome
376 Gordon syndrome
377 Gorlin syndrome
37748 Schnitzler syndrome
380 Greig cephalopolysyndactyly syndrome
391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
391474 Frontorhiny
391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome
392 Holt-Oram syndrome
393 46,XX testicular disorder of sex development
397612 Macrocephaly-developmental delay syndrome
397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
398156 Oculoauriculofrontonasal syndrome
398166 Focal facial dermal dysplasia
40 Acromesomelic dysplasia, Maroteaux type
401923 9q31.1q31.3 microdeletion syndrome
401935 14q24.1q24.3 microdeletion syndrome
401942 Familial median cleft of the upper and lower lips
401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
401973 MEND syndrome
401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
401986 1p31p32 microdeletion syndrome
402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
404443 Tall stature-intellectual disability-facial dysmorphism syndrome
404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
404473 Severe intellectual disability-progressive spastic diplegia syndrome
404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
411493 Pontocerebellar hypoplasia type 10
411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
412035 13q12.3 microdeletion syndrome
412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
420179 Malan overgrowth syndrome
420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
420741 RIDDLE syndrome
420794 Cono-spondylar dysplasia
423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome
42665 Tietz syndrome
42775 PHACE syndrome
431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
434179 Orofaciodigital syndrome type 14
435628 Keppen-Lubinsky syndrome
435638 3p25.3 microdeletion syndrome
435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome
435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
436003 Contractures-developmental delay-Pierre Robin syndrome
436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
436182 Microcephalic primordial dwarfism-insulin resistance syndrome
439822 PDE4D haploinsufficiency syndrome
439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
443162 NDE1-related microhydranencephaly
443995 Mandibulofacial dysostosis with alopecia
444002 11q22.2q22.3 microdeletion syndrome
444051 20q11.2 microdeletion syndrome
444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
444072 Cerebellar-facial-dental syndrome
444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
447980 19p13.3 microduplication syndrome
448242 Autosomal recessive brachyolmia
448267 Regressive spondylometaphyseal dysplasia
452 X-linked lissencephaly with abnormal genitalia
453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
456298 1p35.2 microdeletion syndrome
457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
457240 X-linked intellectual disability-short stature-overweight syndrome
457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
457378 Complex lethal osteochondrodysplasia
457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
458792 Mixed cystic lymphatic malformation
459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
464 Incontinentia pigmenti
464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
464306 DYRK1A-related intellectual disability syndrome
464366 NEK9-related lethal skeletal dysplasia
464738 Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
465824 Fetal encasement syndrome
46627 Char syndrome
466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
468631 Microcephalic primordial dwarfism due to RTTN deficiency
474 Jeune syndrome
476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
477668 Aymé-Gripp syndrome
477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
477817 PMP22-RAI1 contiguous gene duplication syndrome
477831 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
480520 Caroli syndrome
480528 Lethal hydranencephaly-diaphragmatic hernia syndrome
480773 Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
481152 PYCR2-related microcephaly-progressive leukoencephalopathy
482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
485350 CLCN4-related X-linked intellectual disability syndrome
485358 Propylthiouracil embryofetopathy
485405 16p12.1p12.3 triplication syndrome
485421 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
48652 Monosomy 22q13
487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
487825 Pierpont syndrome
488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
488232 Split-foot malformation-mesoaxial polydactyly syndrome
488434 Camptodactyly syndrome, Guadalajara type 3
488437 SIX2-related frontonasal dysplasia
488586 Congenital amyoplasia
488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
488618 Transketolase deficiency
488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
488632 TBCK-related intellectual disability syndrome
488642 TELO2-related intellectual disability-neurodevelopmental disorder
494344 RERE-related neurodevelopmental syndrome
494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
495818 9q33.3q34.11 microdeletion syndrome
495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
498481 LRP5-related primary osteoporosis
498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
498488 Overgrowth syndrome with 2q37 translocations
498497 Short rib-polydactyly syndrome type 5
500 Noonan syndrome with multiple lentigines
502 Langer-Giedion syndrome
503 Autosomal dominant Larsen syndrome
508 Leprechaunism
50809 Talo-patello-scaphoid osteolysis
50810 Microlissencephaly-micromelia syndrome
50814 Craniolenticulosutural dysplasia
50815 Branchiogenic deafness syndrome
50945 Blomstrand lethal chondrodysplasia
52 Alagille syndrome
52022 Potocki-Shaffer syndrome
52047 Braddock syndrome
52054 Craniosynostosis-intracranial calcifications syndrome
52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
52056 Ulnar/fibula ray defect-brachydactyly syndrome
52429 Branchiootic syndrome
53 Albers-Schönberg osteopetrosis
530 Lipoid proteinosis
53035 Caroli disease
531 Miller-Dieker syndrome
53271 Muenke syndrome
534 Oculocerebrorenal syndrome of Lowe
53696 Lethal arthrogryposis-anterior horn cell disease syndrome
53697 Gnathodiaphyseal dysplasia
53719 Wyburn-Mason syndrome
53721 Cobb syndrome
560 Marshall syndrome
561 Marshall-Smith syndrome
56304 Atelosteogenesis type II
56305 Atelosteogenesis type III
564 Meckel syndrome
566 Congenital microcoria
567 22q11.2 deletion syndrome
568 Microphthalmia, Lenz type
574 Monosomy 21
57782 Mazabraud syndrome
59315 Rhombencephalosynapsis
60015 Enlarged parietal foramina
60030 Loeys-Dietz syndrome
60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
627 Nance-Horan syndrome
63442 Angel-shaped phalango-epiphyseal dysplasia
63446 Acrocapitofemoral dysplasia
638 Neurofibromatosis-Noonan syndrome
63862 Schisis association
640 Hereditary neuropathy with liability to pressure palsies
64542 Acrofacial dysostosis, Kennedy-Teebi type
647 Nijmegen breakage syndrome
648 Noonan syndrome
649 Norrie disease
65286 3q29 microdeletion syndrome
65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
65720 Arthrogryposis-severe scoliosis syndrome
65743 Autosomal dominant multiple pterygium syndrome
65759 Carpenter syndrome
65798 Goodman syndrome
66625 Cerebrooculonasal syndrome
66629 Goldberg-Shprintzen megacolon syndrome
66633 Sensorineural hearing loss-early graying-essential tremor syndrome
66637 Diaphanospondylodysostosis
667 Autosomal recessive malignant osteopetrosis
669 Otopalatodigital syndrome
672 Pallister-Hall syndrome
69082 Odonto-tricho-ungual-digito-palmar syndrome
69083 Ectodermal dysplasia with natal teeth, Turnpenny type
69084 Pure hair and nail ectodermal dysplasia
69085 Limb-mammary syndrome
69125 Anonychia with flexural pigmentation
69737 Bosley-Salih-Alorainy syndrome
7 3C syndrome
705 Pendred syndrome
70589 Bronchopulmonary dysplasia
709 Peters plus syndrome
710 Pfeiffer syndrome
71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
71271 Split hand-split foot-deafness syndrome
71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
71526 Obesity due to pro-opiomelanocortin deficiency
71529 Obesity due to melanocortin 4 receptor deficiency
718 Isolated Pierre Robin syndrome
72 Angelman syndrome
73 Gorham-Stout disease
73223 Global developmental delay-osteopenia-ectodermal defect syndrome
73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
744 Proteus syndrome
75382 Oguchi disease
75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
75508 Angioosteohypotrophic syndrome
75857 6q terminal deletion syndrome
769 Rabson-Mendenhall syndrome
77258 Trichorhinophalangeal syndrome type 1 and 3
77296 Morgagni-Stewart-Morel syndrome
77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
77299 Microphthalmia-brain atrophy syndrome
77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
77301 Monosomy 9q22.3
776 X-linked intellectual disability with marfanoid habitus
782 Axenfeld-Rieger syndrome
783 Rubinstein-Taybi syndrome
79022 Simpson-Golabi-Behmel syndrome type 2
79093 Foix-Alajouanine syndrome
79094 Grange syndrome
79106 Eiken syndrome
79107 Developmental malformations-deafness-dystonia syndrome
79113 Mandibulofacial dysostosis-microcephaly syndrome
79129 Trichodysplasia-amelogenesis imperfecta syndrome
79132 Sparse hair-short stature-skin anomalies syndrome
792 X-linked retinoschisis
79345 Brachytelephalangic chondrodysplasia punctata
79346 Chondrodysplasia punctata, tibial-metacarpal type
79347 Chondrodysplasia punctata, Toriello type
794 Saethre-Chotzen syndrome
79447 X-linked lethal multiple pterygium syndrome
79486 Cystic hygroma
79489 Macrocystic lymphatic malformation
79490 Microcystic lymphatic malformation
79499 Autosomal dominant deafness-onychodystrophy syndrome
79500 DOORS syndrome
798 Schinzel-Giedion syndrome
8 47,XYY syndrome
808 Seckel syndrome
818 Smith-Lemli-Opitz syndrome
819 Smith-Magenis syndrome
83 Antley-Bixler syndrome
83454 Glomuvenous malformation
83461 Congenital primary aphakia
83472 CAMOS syndrome
83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome
83628 LUMBAR syndrome
84 Fanconi anemia
85163 Hypomyelination-congenital cataract syndrome
85166 Platyspondylic dysplasia, Torrance type
85168 Craniofacial conodysplasia
85169 Familial digital arthropathy-brachydactyly
85170 Mesomelic dysplasia, Savarirayan type
85173 IMAGe syndrome
85174 Pseudodiastrophic dysplasia
85175 Astley-Kendall dysplasia
85179 Infantile osteopetrosis with neuroaxonal dysplasia
85184 Craniometadiaphyseal dysplasia, wormian bone type
85186 Endosteal sclerosis-cerebellar hypoplasia syndrome
85188 Metaphyseal dysplasia, Braun-Tinschert type
85191 Singleton-Merten dysplasia
85192 Calvarial doughnut lesions-bone fragility syndrome
85193 Idiopathic juvenile osteoporosis
85194 Spondylo-ocular syndrome
85198 Dysspondyloenchondromatosis
85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
85200 Ischio-vertebral syndrome
85201 Genitopatellar syndrome
85202 Keutel syndrome
85203 Acropectoral syndrome
85273 X-linked intellectual disability, Abidi type
85274 Syndromic X-linked intellectual disability 7
85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome
85276 X-linked intellectual disability, Armfield type
85277 X-linked intellectual disability, Cantagrel type
85278 Christianson syndrome
85279 Syndromic X-linked intellectual disability due to JARID1C mutation
85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
85282 MEHMO syndrome
85283 X-linked intellectual disability, Miles-Carpenter type
85284 BRESEK syndrome
85285 X-linked intellectual disability, Schimke type
85286 X-linked intellectual disability, Shashi type
85287 X-linked intellectual disability, Siderius type
85288 X-linked intellectual disability, Stocco Dos Santos type
85290 X-linked intellectual disability, Wilson type
85293 X-linked intellectual disability, Cabezas type
85297 X-linked spinocerebellar ataxia type 3
85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
85318 X-linked intellectual disability-precocious puberty-obesity syndrome
85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome
85321 Deafness-intellectual disability syndrome, Martin-Probst type
85322 X-linked intellectual disability, Pai type
85324 X-linked intellectual disability, Shrimpton type
85325 X-linked intellectual disability, Stevenson type
85326 X-linked intellectual disability, Stoll type
85328 X-linked intellectual disability, Turner type
85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
85335 Fried syndrome
85438 Enthesitis-related juvenile idiopathic arthritis
857 Townes-Brocks syndrome
861 Treacher-Collins syndrome
86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome
86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
86913 Myoclonic epilepsy in non-progressive encephalopathies
86914 Lymphedema-cerebral arteriovenous anomaly syndrome
86915 Lymphedema-atrial septal defects-facial changes syndrome
87 Apert syndrome
870 Down syndrome
881 Turner syndrome
884 Tetrasomy 12p
88630 Terminal osseous dysplasia-pigmentary defects syndrome
887 VACTERL/VATER association
888 Van der Woude syndrome
893 WAGR syndrome
9 Tetrasomy X
90024 Deafness with labyrinthine aplasia, microtia, and microdontia
90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
904 Williams syndrome
90646 Deafness-hypogonadism syndrome
908 Fragile X syndrome
91133 Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
91355 Sheehan syndrome
91491 Congenital ectropion uveae
91494 Macular coloboma-cleft palate-hallux valgus syndrome
915 Aarskog-Scott syndrome
916 Aase-Smith syndrome
920 Ablepharon macrostomia syndrome
921 Abruzzo-Erickson syndrome
929 Achalasia-microcephaly syndrome
93164 Transient pseudohypoaldosteronism
93256 Fragile X-associated tremor/ataxia syndrome
93262 Crouzon syndrome-acanthosis nigricans syndrome
93267 Cloverleaf skull-multiple congenital anomalies syndrome
93268 Short rib-polydactyly syndrome, Beemer-Langer type
93269 Short rib-polydactyly syndrome, Majewski type
93270 Short rib-polydactyly syndrome, Saldino-Noonan type
93271 Short rib-polydactyly syndrome, Verma-Naumoff type
93293 Okihiro syndrome
93302 Brachyolmia, Maroteaux type
93304 Autosomal dominant brachyolmia
93317 Spondylometaphyseal dysplasia, Sedaghatian type
93333 Pelviscapular dysplasia
93382 Brachydactyly type A6
93383 Brachydactyly type B
93384 Brachydactyly type C
93387 Brachydactyly type E
93388 Brachydactyly type A1
93389 Brachydactyly type A5
93394 Brachydactyly type A4
93395 Ballard syndrome
93396 Brachydactyly type A2
93397 Brachydactyly type A7
93409 Brachydactyly-syndactyly, Zhao type
93970 Holmes-Gang syndrome
93971 Chudley-Lowry-Hoar syndrome
93972 Juberg-Marsidi syndrome
93973 Carpenter-Waziri syndrome
93974 Smith-Fineman-Myers syndrome
93975 Renier-Gabreels-Jasper syndrome
94063 12q14 microdeletion syndrome
94064 Deafness-infertility syndrome
94065 15q24 microdeletion syndrome
94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
94083 Partington syndrome
94088 Hereditary renal hypouricemia
94095 Spondylocostal dysostosis-anal and genitourinary malformations syndrome
945 Acalvaria
949 Acrocraniofacial dysostosis
950 Acrodysostosis
952 Acrofacial dysostosis, Weyers type
955 Acroosteolysis dominant type
956 Acropectororenal dysplasia
957 Acropectorovertebral dysplasia
958 Acro-renal-mandibular syndrome
959 Acro-renal-ocular syndrome
96055 Tetrasomy 21
96059 Mosaic trisomy 4
96060 Mosaic trisomy 5
96061 Mosaic trisomy 8
96063 Mosaic trisomy 10
96068 Mosaic trisomy 22
96069 Distal trisomy 1p36
96070 Distal trisomy 2p
96071 Distal trisomy 3p
96072 4p16.3 microduplication syndrome
96074 Distal trisomy 7p
96078 16p13.3 microduplication syndrome
96092 8p inverted duplication/deletion syndrome
96094 Distal trisomy 2q
96095 3q26 microduplication syndrome
96096 Distal trisomy 4q
96097 Distal trisomy 5q
96098 Distal trisomy 6q
96100 Distal trisomy 8q
96101 Distal trisomy 9q
96102 Distal trisomy 10q
96103 Distal trisomy 11q
96105 Distal trisomy 13q
96106 Distal trisomy 16q
96107 Distal trisomy 20q
96109 Distal trisomy 22q
96112 Non-distal trisomy 9q
96121 7q11.23 microduplication syndrome
96123 Monosomy 22
96125 Distal monosomy 6p
96126 Distal monosomy 7p
96129 Distal monosomy 19p13.3
96136 Non-distal monosomy 7p
96145 Distal monosomy 4q
96148 Distal monosomy 10q
96149 Distal monosomy 12q
96150 Distal monosomy 14q
96152 Distal monosomy 20q
96160 Non-distal monosomy 12q
96164 Non-distal monosomy 20q
96167 Recombinant 8 syndrome
96168 Monosomy 13q34
96169 Koolen-De Vries syndrome
96170 Emanuel syndrome
96171 Ring chromosome 2 syndrome
96172 Ring chromosome 3 syndrome
96173 Ring chromosome 9 syndrome
96175 Ring chromosome 11 syndrome
96176 Ring chromosome 13 syndrome
96177 Ring chromosome 15 syndrome
96178 Ring chromosome 16 syndrome
96179 Maternal uniparental disomy of chromosome 2
96180 Maternal uniparental disomy of chromosome 4
96181 Maternal uniparental disomy of chromosome 6
96183 Maternal uniparental disomy of chromosome 9
96185 Maternal uniparental disomy of chromosome 16
96186 Maternal uniparental disomy of chromosome 20
96187 Maternal uniparental disomy of chromosome 21
96188 Maternal uniparental disomy of chromosome 22
96190 Paternal uniparental disomy of chromosome 5
96191 Paternal uniparental disomy of chromosome 6
96192 Paternal uniparental disomy of chromosome 7
96194 Paternal uniparental disomy of chromosome 20
96195 Paternal uniparental disomy of chromosome 21
96201 X small rings
96263 48,XXXY syndrome
96264 49,XXXXY syndrome
965 Acromegaloid facial appearance syndrome
966 Hypertrichosis-acromegaloid facial appearance syndrome
968 Acromesomelic dysplasia, Hunter-Thompson type
969 Acromicric dysplasia
971 Acrorenal syndrome
97214 Eisenmenger syndrome
97229 Riboflavin transporter deficiency
97249 Pontocerebellar hypoplasia type 3
97297 Bohring-Opitz syndrome
97340 Hunter-McAlpine craniosynostosis
97360 Robinow syndrome
974 Adams-Oliver syndrome
97548 Ivemark syndrome
97678 Maternal uniparental disomy of chromosome 13
978 ADULT syndrome
98606 Syndromic orbital border hypoplasia
98797 Isochromosomy Yp
98798 Isochromosomy Yq
988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
989 Hypoglossia-hypodactyly syndrome
98938 Colobomatous microphthalmia
990 Agnathia-holoprosencephaly-situs inversus syndrome
99048 Pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome
99063 Shone complex
991 PAGOD syndrome
99141 Lymphedema-posterior choanal atresia syndrome
99179 Kandori fleck retina
99324 Paternal uniparental disomy of chromosome 13
99329 48,XYYY syndrome
99330 49,XYYYY syndrome
994 Fetal akinesia deformation sequence
99672 Fried's tooth and nail syndrome
99688 Dermotrichic syndrome
99741 King-Denborough syndrome
99742 Amish lethal microcephaly
99776 Mosaic trisomy 9
998 Albinism-deafness syndrome
99802 Hemimegalencephaly
99803 Haddad syndrome
99806 Oculootodental syndrome
999 Ermine phenotype