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Summary Literature (0)
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, MRX59, MRXS21, Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 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, syndromic X-linked mental retardation 21, syndromic X-linked mental retardation Fried type

Xenbase Genes : ap1s2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010574 - syndromic X-linked intellectual disability 5

OMIM:
OMIM:304340 - PETTIGREW SYNDROME; PGS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)