Conditions / Genetic
autosomal dominant intellectual developmental disorder 41
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32.
Signs and symptoms
- Hypsarrhythmia
- Thick eyebrow
- Hypotonia
- Global developmental delay
- Epileptic spasm
- Tonic seizure
- Autistic behavior
- Long palpebral fissure
- Downturned corners of mouth
- Intellectual disability
Also known as: MRD41; autosomal dominant mental retardation 41; autosomal dominant non-syndromic intellectual disability 41