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syndromic X-linked intellectual disability 5 (DOID:0060800)
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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
Alt IDs: OMIM:304340, ICD10CM:Q87.8, ORDO:1568, ORDO:85335, UMLS_CUI:C0796254
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.

Disease References using Mouse Models (1)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory