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Metadata
ID DOID:0060806
Name syndromic X-linked intellectual disability Hedera type
Definition A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
https://www.ncbi.nlm.nih.gov/pubmed/11782983, https://www.ncbi.nlm.nih.gov/pubmed/15746149
Xrefs

OMIM:300423

ORDO:93952

Subsets

DO_rare_slim

Synonyms

mental retardation, X-linked, syndromic, Hedera type [EXACT]

MRXE [EXACT]

MRXSH [EXACT]

X-linked mental retardation with epilepsy [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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