complex cortical dysplasia with other brain malformations 13

info · Genetic

A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

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: CDCBM13