Conditions / Genetic
autosomal recessive intellectual developmental disorder 76
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33.
Signs and symptoms
- Absent speech
- Feeding difficulties
- Seizure
- Sleep disturbance
- Delayed fine motor development
- Precocious puberty in females
- Severe intellectual disability
- Interictal epileptiform activity
- Chronic constipation
- Self-injurious behavior