neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
MONDO:0032792Mondo
Findings
No curated finding names neuropathy, hereditary motor and sensory, type VIc, with optic atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · 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.
- AreflexiaHPOHP:0001284
- 4 of 4 reported patients
- Color vision defectHPOHP:0000551
- 4 of 4 reported patients
- HammertoeHPOHP:0001765
- 5 of 5 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 4 of 4 reported patients
- Impaired pain sensationHPOHP:0007328
- 4 of 4 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 5 of 5 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 5 of 5 reported patients
- Optic atrophyHPOHP:0000648
- 5 of 5 reported patients · Adult onset
- Optic disc pallorHPOHP:0000543
- 4 of 4 reported patients
- Pes cavusHPOHP:0001761
- 5 of 5 reported patients
- Positive Romberg signHPOHP:0002403
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
Show the remaining 2
- Upper limb muscle weaknessHPOHP:0003484
- 5 of 5 reported patients · Early young adult onset
- Claw hand deformityHPOHP:0034337
- 3 of 5 reported patients
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.
- PDXKHGNC:8819
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
- Also called
- Charcot-Marie-Tooth Disease, Type 6CCMT 6CCMT6CHMSN 6CHMSN6C