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 the SOX11 gene on chromosome 2p25.2. https://www.ncbi.nlm.nih.gov/pubmed/24886874
References:
Ontology: Human Disease   ( DOID:0070057 )
Relationships
is a type of:
OTHER Coffin-Siris syndrome 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX11 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 615866
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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