1576 Infantile bilateral striatal necrosis

182073 Syndromic neurometabolic disease with non-X-linked intellectual disability 1

293642 Blepharophimosis-intellectual disability syndrome

3231 Deafness-onychodystrophy syndrome

324761 Microcephalic primordial dwarfism

35981 Polymicrogyria

404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

48471 Lissencephaly 5

497623 C12ORF65-related combined oxidative phosphorylation defect

98464 X-linked syndromic intellectual disability 5