Human genes for syndromic X-linked intellectual disability 5
Syndromic X-linked intellectual disability 5 [DOID:0060800]
A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
Synonyms: syndromic X-linked intellectual disability 5, DOID:0060800, syndromic Xlinked intellectual disability 5, Fried syndrome, Mental retardation, X-linked syndromic 5 ...