OBO ID: DOID:0060823
Term Name: syndromic X-linked intellectual disability 94 Search Ontology:
Synonyms:
  • mental retardation, X-linked 94
  • MRX94
  • MRXS29
  • syndromic X-linked intellectual disability due to GRIA3 anomalies
  • syndromic X-linked mental retardation 29
  • syndromic X-linked mental retardation Wu type
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. (3)
References:
Ontology: Human Disease   ( DOID:0060823 )
OTHER syndromic X-linked intellectual disability 94 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRIA3 Intellectual developmental disorder, X-linked syndromic, Wu type 300699
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None