Conditions / Nervous system
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
info · Nervous system
A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and with symptoms of seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebel
A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and with symptoms of seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy.
Signs and symptoms
- Ataxia
- Global developmental delay
- Bilateral tonic-clonic seizure
- Developmental regression
- Microcephaly
- Seizure
- Poor speech
- Muscle weakness
- Axonal loss
- Cerebral atrophy
Also known as: CONDSIAS