syndromic X-linked intellectual disability 5

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ap1s2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010574 - manual digit 5 metacarpus cartilage element

MONDO:0010574 - manual digit 5 metacarpus cartilage element

MIM:

MIM:304340 - PETTIGREW SYNDROME; PGS

MIM:304340 - PETTIGREW SYNDROME; PGS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a), X-linked recessive disease (is_a)