Conditions / Syndrome
Brown-Vialetto-Van Laere syndrome 1
info · Syndrome
A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.
Signs and symptoms
- Cranial nerve paralysis
- Vocal cord paralysis
- Weak voice
- Nocturnal hypoventilation
- Hyperreflexia
- Myopathic facies
- Clumsiness
- Dysphagia
- Scoliosis
- Respiratory distress