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Metadata
ID DOID:0060800
Name syndromic X-linked intellectual disability 5
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.
https://www.ncbi.nlm.nih.gov/pubmed/19377476, https://www.ncbi.nlm.nih.gov/pubmed/23756445
Xrefs

MESH:C535773

NCI:C124839

OMIM:304340

ORDO:1568

ORDO:85335

SNOMEDCT_US_2023_03_01:719139003

UMLS_CUI:C0796254

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Fried syndrome [EXACT]

Mental retardation, X-linked syndromic 5 [EXACT]

MRX59 [EXACT]

MRXS21 [EXACT]

Pettigrew syndrome [EXACT]

syndromic X-linked mental retardation 21 [EXACT]

syndromic X-linked mental retardation Fried type [EXACT]

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [EXACT]

X-linked mental retardation 59 [EXACT]

X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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