Conditions / Genetic
autosomal recessive intellectual developmental disorder 65
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32.
Signs and symptoms
- Moderate intellectual disability
- Square face
- Moderate global developmental delay
- Feeding difficulties
- Myopia
- Bulbous nose
- Unsteady gait
- Abnormal pinna morphology
- Delayed speech and language development
- Hypoplasia of the corpus callosum