Conditions / Genetic
autosomal dominant intellectual developmental disorder 75
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25.
Signs and symptoms
- Epicanthus
- Upslanted palpebral fissure
- Short stature
- Cerebellar atrophy
- Gastroesophageal reflux
- Smooth philtrum
- Hypertelorism
- Thin upper lip vermilion
- Retrognathia
- Wide nasal bridge