DISEASES

Disease-gene associations mined from literature

Human genes for C syndrome

C syndrome [DOID:0111581]

A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2.

Synonyms:  C syndrome,  C disease,  C disorder,  C syndromes,  DOID:0111581 ...