Term Name: | syndromic X-linked intellectual disability 5 |
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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 ) |