Conditions / Genetic
autosomal dominant intellectual developmental disorder 31
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.
Signs and symptoms
- Hypotonia
- Absent speech
- Feeding difficulties
- Global developmental delay
- Respiratory insufficiency
- Seizure
- Myopathic facies
- Prominent forehead
- Intellectual disability
- Open mouth
Also known as: MRD31; autosomal dominant mental retardation 31; autosomal dominant non-syndromic intellectual disability 31