Version: 8.0.0
Date: Tue Jan 28 2025
Coffin-Siris syndrome 9
DOID:0070057
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Coffin-Siris syndrome 9

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.
Synonyms
  • autosomal dominant mental retardation 27
  • autosomal dominant non-syndromic intellectual disability 27
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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