Conditions / Genetic
autosomal dominant intellectual developmental disorder 1
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1.
Signs and symptoms
- Seizure
- Ataxia
- Constipation
- Intellectual disability
- Sandal gap
- Motor delay
- Severe intellectual disability
- Wide mouth
- Febrile seizure (within the age range of 3 months to 6 years)
- Reduced social responsiveness
Also known as: MRD1; autosomal dominant mental retardation 1; autosomal dominant non-syndromic intellectual disability 1