Conditions / Genetic
autosomal dominant intellectual developmental disorder 36
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.
Signs and symptoms
- Gait ataxia
- Severe intellectual disability
- Intellectual disability
- Global developmental delay
- Absent speech
- Seizure
- Hypotonia
- Plagiocephaly
- Hypoplasia of the corpus callosum
- Inability to walk
Also known as: MRD36; autosomal dominant mental retardation 36; autosomal dominant non-syndromic intellectual disability 36