| 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 | |
| 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 |