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General Information
ZIRC
OBO ID: DOID:1925
Term Name: Coffin-Siris syndrome Search Ontology:
Synonyms:
  • Dwarfism-Onychodysplasia
  • Fifth Digit Syndrome
  • Short Stature-Onychodysplasia.
Definition: An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. (3)
References:
Ontology: Human Disease   (DOID:1925)
OTHER Coffin-Siris syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)