DISEASES

Disease-gene associations mined from literature

Human genes for autosomal dominant mental retardation 56

Autosomal dominant mental retardation 56 [DOID:0080226]

A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.

Synonyms:  autosomal dominant mental retardation 56,  DOID:0080226