Term Name: syndromic X-linked intellectual disability 5
Synonyms: Fried syndrome, Mental retardation, X-linked syndromic 5, MRX59, MRXS21, Pettigrew syndrome, syndromic X-linked mental retardation 21, syndromic X-linked mental retardation Fried type, X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome, X-linked mental retardation 59, X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
Definition: 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.
Ontology: Human Disease [DOID:0060800]   ( DOID:0060800 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease