Conditions / Genetic
autosomal recessive intellectual developmental disorder 2
info ยท Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.
Signs and symptoms
- Mild intellectual disability
- Self-injurious behavior
- Severe intellectual disability
- Seizure
- Global developmental delay
- Delayed ability to walk
- Attention deficit hyperactivity disorder
- Absent speech