autosomal dominant intellectual developmental disorder 4

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2.

Signs and symptoms

Short chin
Midface retrusion
Syndactyly
Intellectual disability
Short toe
Exotropia
Severe intellectual disability

Also known as: MRD4; autosomal dominant mental retardation 4; autosomal dominant non-syndromic intellectual disability 4