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Metadata
ID DOID:0060823
Name syndromic X-linked intellectual disability 94
Definition A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
https://www.ncbi.nlm.nih.gov/pubmed/17989220, https://www.ncbi.nlm.nih.gov/pubmed/19449417, https://www.ncbi.nlm.nih.gov/pubmed/24721225
Xrefs

ICD10CM:F72

OMIM:300699

ORDO:364028

Subsets

DO_rare_slim

Synonyms

mental retardation, X-linked 94 [EXACT]

MRX94 [EXACT]

MRXS29 [EXACT]

syndromic X-linked intellectual disability due to GRIA3 anomalies [EXACT]

syndromic X-linked mental retardation 29 [EXACT]

syndromic X-linked mental retardation Wu type [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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