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

• MIM:615866

Ontology

Human Disease   ( DOID:0070057 )