Conditions / Genetic
autosomal dominant intellectual developmental disorder 52
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.
Signs and symptoms
- Delayed CNS myelination
- Strabismus
- Pica
- Asymmetry of the ears
- Obsessive-compulsive trait
- Intellectual disability
- Microcephaly
- Absent speech
- Deeply set eye
- Global developmental delay
Also known as: autosomal dominant mental retardation 52