Conditions / Genetic
hereditary spastic paraplegia 64
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.
Signs and symptoms
- Spastic paraplegia
- Spasticity
- Abnormal cerebral white matter morphology
- Skeletal muscle atrophy
- Microcephaly
- Moderate intellectual disability
- Gait disturbance
- Dysarthria
- Aggressive behavior
- Delayed puberty
Also known as: SPG64; autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64