139009 Developmental anomaly of metabolic origin 7

139012 Rare bone development disorder 2

139021 Malformation syndrome with short stature 1

139024 Overgrowth/obesity syndrome 2

139027 Malformation syndrome with skin/mucosae involvement 5

139030 Rare developmental defect with connective tissue involvement 2

139033 Progeroid syndrome

139036 Branchial arch or oral-acral syndrome 1

139042 Malformation syndrome with odontal and/or periodontal component 1

155832 Rare head and neck malformation 9

52662 Rare teratologic disease 3

68335 Chromosomal anomaly 3

68341 Multiple congenital anomalies/dysmorphic syndrome 4

68378 Congenital limb malformation 2

68419 Vascular anomaly or angioma 5

83001 Urogenital tract malformation 2

90642 Syndromic genetic deafness 3

90771 Disorder of sex development 3

93545 Renal or urinary tract malformation 2

97965 Rare surgical cardiac disease 2

98038 Cranial malformation 1

98039 Digestive tract malformation 4

98041 Visceral malformation of the liver, biliary tract, pancreas or spleen 2

98043 Diaphragmatic or abdominal wall malformation 2

98044 Central nervous system malformation 2

98045 Respiratory or mediastinal malformation 2

98196 Malformation syndrome with hamartosis 1

98553 Developmental defect of the eye 4