Conditions / Genetic
autosomal recessive intellectual developmental disorder 41
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.
Signs and symptoms
- Prominent forehead
- High palate
- Retrognathia
- Frontal bossing
- Intellectual disability
- Delayed speech and language development
- Macrocephaly
- Anxiety
- Hypotonia
- Mandibular prognathia