Conditions / Genetic
autosomal dominant intellectual developmental disorder 40
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
Signs and symptoms
- Tented upper lip vermilion
- Hypermetropia
- Hypotonia
- Motor delay
- High palate
- Intellectual disability
- Delayed speech and language development
- Everted lower lip vermilion
- Delayed ability to walk
- Global developmental delay
Also known as: MRD40; autosomal dominant mental retardation 40; autosomal dominant non-syndromic intellectual disability 40