Conditions / Genetic
autosomal dominant intellectual developmental disorder 62
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.
Signs and symptoms
- Scoliosis
- Intellectual disability
- Strabismus
- Arachnodactyly
- Seizure
- Joint hypermobility
- Striae distensae
- Increased arm span
- Disproportionate tall stature
- Autistic behavior