peripheral motor neuropathy, childhood-onset, biotin-responsive
MONDO:0859255Mondo
Findings
No curated finding names peripheral motor neuropathy, childhood-onset, biotin-responsive 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
HPO, annotations 2026-09-02
Features
11 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.
- Interosseus muscle atrophyHPOHP:0007181
- 4 of 5 reported patients
- Thenar muscle atrophyHPOHP:0003393
- 4 of 5 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 3 of 5 reported patients
- Fiber type groupingHPOHP:0033685
- 1 of 2 reported patients
- Areflexia of lower limbsHPOHP:0002522
- 2 of 5 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 5 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 5 reported patients
- DysdiadochokinesisHPOHP:0002075
- 1 of 5 reported patients
- DysmetriaHPOHP:0001310
- 1 of 5 reported patients
- Premature graying of hairHPOHP:0002216
- 1 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 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.
- SLC5A6HGNC:11041
- Strong · PanelApp Australia · Autosomal recessive · 2025