OBO ID: DOID:0112051
Term Name: non-syndromic X-linked intellectual disability 30 Search Ontology:
Synonyms:
  • MRX30
  • MRX47
  • X-linked mental retardation 30
  • X-linked mental retardation 30/47
  • X-linked mental retardation 47
Definition: A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (3)
References:
Ontology: Human Disease   ( DOID:0112051 )
OTHER non-syndromic X-linked intellectual disability 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAK3 Intellectual developmental disorder, X-linked 30
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None