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DOID:0060800 - syndromic X-linked intellectual disability 5
Disease Ontology 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.
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
Xenbase Genes
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ap1s2
| MONDO:0010574 - manual digit 5 metacarpus cartilage element |
| MIM:304340 - PETTIGREW SYNDROME; PGS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view