OBO ID: DOID:0112126
Term Name: Stocco Dos Santos type X-linked intellectual disability Search Ontology:
Synonyms:
  • SDSX
  • Stocco dos Santos X-linked mental retardation syndrome
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. https://pubmed.ncbi.nlm.nih.gov/16249884/
References:
Ontology: Human Disease   ( DOID:0112126 )
OTHER Stocco Dos Santos type X-linked intellectual disability PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None