Hereditary sensory and autonomic neuropathy with deafness and global delay
ORPHA:139573· ICD-10 G60.8
Definition
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy