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Syndromic X-linked intellectual disability 94
rareA 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.
- Identifiers
- MONDO:0010402 OMIM:300699Orphanet:364028
- Causal genes
- GRIA3
- Also known as
- intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive · intellectual disability, X-linked 94 · intellectual disability, X-linked, syndromic, Wu type · mental retardation, X-linked 94 · mental retardation, X-linked, syndromic 29
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