OBO ID: DOID:0081123
Term Name: X-linked mental retardation Gustavson type Search Ontology:
Synonyms:
  • mental retardation with optic atrophy, deafness and seizures
Definition: A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. https://pubmed.ncbi.nlm.nih.gov/8503440/
References:
Ontology: Human Disease   ( DOID:0081123 )
Relationships
is a type of:
OTHER X-linked mental retardation Gustavson type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RBMX ?Intellectual developmental disorder, X-linked syndromic, Gustavson type 309555
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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