OBO ID: DOID:0070057
Term Name: Coffin-Siris syndrome 9 Search Ontology:
Synonyms:
  • autosomal dominant mental retardation 27
  • autosomal dominant non-syndromic intellectual disability 27
  • MRD27
Definition: An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2. https://www.ncbi.nlm.nih.gov/pubmed/24886874
References:
Ontology: Human Disease   (DOID:0070057)
OTHER Coffin-Siris syndrome 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX11 Coffin-Siris syndrome 9 615866
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None