autosomal dominant intellectual developmental disorder 13

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31.

Signs and symptoms

Short foot
Hypotonia
Prominent forehead
Waddling gait
Broad foot
Broad palm
Facial hypotonia
Hyporeflexia
Downslanted palpebral fissures
Short palm

Also known as: MRD13; autosomal dominant mental retardation 13; autosomal dominant non-syndromic intellectual disability 13; mental retardation, autosomal dominant 13, with neuronal migration defects