Conditions / Genetic
autosomal dominant intellectual developmental disorder 46
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
Signs and symptoms
- Delayed speech and language development
- Hypotonia
- Intellectual disability
- Absent speech
- Seizure
- Global developmental delay
- Unsteady gait
- Focal impaired awareness seizure
- Tube feeding
- Brain atrophy
Also known as: autosomal dominant mental retardation 46