OBO ID: DOID:0112056
Term Name: X-linked intellectual disability-short stature-overweight syndrome Search Ontology:
Synonyms:
  • MRX12
  • MRX35
  • X-linked mental retardation 12
  • X-linked mental retardation 35
Definition: A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25. https://pubmed.ncbi.nlm.nih.gov/26166480/
References:
Ontology: Human Disease   (DOID:0112056)
OTHER X-linked intellectual disability-short stature-overweight syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
THOC2 Intellectual developmental disorder, X-linked 12 300957
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None