autosomal dominant intellectual developmental disorder 19

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.

Signs and symptoms

Broad nasal tip
Intellectual disability
Hypoplasia of the corpus callosum
Global developmental delay
Primary microcephaly
Hypotonia
Delayed ability to sit
Long philtrum
High palate
Scoliosis

Also known as: MRD19; autosomal dominant mental retardation 19; autosomal dominant non-syndromic intellectual disability 19