Conditions / Genetic
autosomal dominant intellectual developmental disorder 33
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2.
Signs and symptoms
- Decreased body weight
- Microcephaly
- Intellectual disability
- Short stature
- Scoliosis
- Delayed skeletal maturation
- Amblyopia
- Hyperactivity
- Chorioretinal atrophy
Also known as: MRD33; autosomal dominant mental retardation 33; autosomal dominant non-syndromic intellectual disability 33