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Autosomal recessive axonal neuropathy with neuromyotonia
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Waardenburg syndrome type 2
Chuvash erythrocytosis
Peters anomaly
Von Hippel-Lindau disease
- Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
HINT1 P49773601314
No signs/symptoms info available.