Conditions / Genetic
autosomal dominant intellectual developmental disorder 29
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3.
Signs and symptoms
- Motor delay
- Delayed speech and language development
- Intellectual disability
- Ptosis
- Hypotonia
- Low-set ears
- Narrow palate
- High palate
- Visual impairment
- Broad hallux
Also known as: MRD29; autosomal dominant mental retardation 29; autosomal dominant non-syndromic intellectual disability 29