neuropathy, hereditary motor and sensory, type 6A
Findings
No curated finding names neuropathy, hereditary motor and sensory, type 6A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011002), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Distal muscle weaknessHPOHP:0002460
- 10 of 10 reported patients
- Distal sensory impairmentHPOHP:0002936
- 10 of 10 reported patients
- HyporeflexiaHPOHP:0001265
- 10 of 10 reported patients
- Optic atrophyHPOHP:0000648
- 10 of 10 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 10 of 10 reported patients
- Vocal cord paresisHPOHP:0001604
- 4 of 10 reported patients
- Mild neurosensory hearing impairmentHPO
Show the remaining 2
- Lumbar hyperlordosisHPOHP:0002938
- Optic disc pallorHPOHP:0000543
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.
- MFN2HGNC:16877
- Definitive · G2P · Autosomal dominant · 2017
Where it sits
Other names
6 names
Resolves to: neuropathy, hereditary motor and sensory, type 6A
- Also called
- Charcot-Marie-Tooth disease, type 6Ahereditary motor and sensory neuropathy type 6 caused by mutation in MFN2hereditary motor and sensory neuropathy VIAHMSN6AMFN2 hereditary motor and sensory neuropathy type 6neuropathy, hereditary motor and sensory, type VIA