Search Ontology:
Human Disease

syndromic X-linked intellectual disability 94

Term ID
DOID:0060823
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models