neuropathy, hereditary motor and sensory, type 6B
Findings
No curated finding names neuropathy, hereditary motor and sensory, type 6B 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 SLC25A46 gene.
Definition from the Mondo Disease Ontology (MONDO:0014671), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 3 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 6 reported patients
- HypertoniaHPOHP:0001276
- 3 of 6 reported patients
- Optic atrophyHPOHP:0000648
- 3 of 6 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 6 reported patients
- AreflexiaHPOHP:0001284
Show the remaining 8
- Distal amyotrophyHPOHP:0003693
- 1 of 6 reported patients
- DysmetriaHPOHP:0001310
- 1 of 6 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 6 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 6 reported patients
- Intention tremorHPOHP:0002080
- 1 of 6 reported patients
- NystagmusHPOHP:0000639
- 1 of 6 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.
- SLC25A46HGNC:25198
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
7 names
Resolves to: neuropathy, hereditary motor and sensory, type 6B
- Also called
- Charcot-Marie-Tooth disease, type 6BCMT6Bhereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46HMSN 6BHMSN6Bneuropathy, hereditary motor and sensory, type VIBSLC25A46 hereditary motor and sensory neuropathy type 6