X-linked hereditary sensory and autonomic neuropathy with hearing loss
Findings
No curated finding names X-linked hereditary sensory and autonomic neuropathy with hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0010378), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cochlear nerve hypoplasiaHPOHP:0034585
- 7 of 7 reported patients
- Hearing impairmentHPOHP:0000365
- 16 of 16 reported patients
- TinnitusHPOHP:0000360
- 12 of 16 reported patients
- Unsteady gaitHPOHP:0002317
- 7 of 16 reported patients
- MyopiaHPOHP:0000545
- 4 of 16 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 16 reported patients
- Skeletal muscle atrophyHPOHP:0003202
Show the remaining 1
- Sensory axonal neuropathyHPOHP:0003390
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AIFM1HGNC:8768
- Definitive · ClinGen · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: X-linked hereditary sensory and autonomic neuropathy with hearing loss
- Also called
- X-linked auditory neuropathy with peripheral sensory neuropathy type 1