Conditions / Genetic
autosomal recessive intellectual developmental disorder 34
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22.
Signs and symptoms
- Intellectual disability
- Increased head circumference
- Megalencephaly
- Delayed speech and language development
- Lissencephaly
- Pachygyria
- Seizure
- Bilateral tonic-clonic seizure