peroxisome biogenesis disorder 6B
MONDO:0013937Mondo
Findings
No curated finding names peroxisome biogenesis disorder 6B 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 · Childhood onset
HPO, annotations 2026-09-02
Features
21 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.
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Delayed menarcheHPOHP:0012569
- 1 of 1 reported patient
- Dysmetric saccadesHPOHP:0000641
- 1 of 1 reported patient
- Elevated circulating phytanic acid concentrationHPOHP:0010571
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- LeukodystrophyHPOHP:0002415
- 1 of 1 reported patient
- Motor axonal neuropathyHPOHP:0007002
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Unsteady gaitHPOHP:0002317
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 2 of 3 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 3 reported patients
Show the remaining 9
- Absent Achilles reflexHPOHP:0003438
- 1 of 2 reported patients
- AreflexiaHPOHP:0001284
- 1 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 1 of 2 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 1 of 2 reported patients
- Impaired smooth pursuitHPOHP:0007772
- 1 of 2 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 1 of 2 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.
- PEX10HGNC:8851
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: peroxisome biogenesis disorder 6B
- Also called
- peroxisome biogenesis disorder type 6B