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Human Disease

Coffin-Siris syndrome 9

Term ID
DOID:0070057
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
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Genes Involved
Zebrafish Models