Conditions / Genetic
autosomal recessive intellectual developmental disorder 71
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22.
Signs and symptoms
- Global developmental delay
- Intellectual disability
- Seizure
- Arachnoid granulation
- Long face
- Prune belly
- Macrotia
- Attention deficit hyperactivity disorder
- Macrocephaly
- Micropenis