Conditions / Genetic
NESCAV syndrome
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
Signs and symptoms
- Intellectual disability
- Cerebellar vermis atrophy
- Axial hypotonia
- Global developmental delay
- Appendicular spasticity
- Spasticity
- Delayed speech and language development
- Cerebellar atrophy
- Optic atrophy
- Peripheral axonal neuropathy
Also known as: MRD9; NESCAVS; autosomal dominant intellectual disability 9; autosomal dominant mental retardation 9; autosomal dominant non-syndromic intellectual disability 9