peroxisome biogenesis disorder 10B
MONDO:0054549Mondo
Findings
No curated finding names peroxisome biogenesis disorder 10B 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
- Congenital 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.
- Appendicular hypotoniaHPOHP:0012389
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient · Childhood onset
- Focal clonic seizureHPOHP:0002266
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Inverted nipplesHPOHP:0003186
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- NephrocalcinosisHPOHP:0000121
- 1 of 1 reported patient
- Neurogenic bladderHPOHP:0000011
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
Show the remaining 2
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Spastic paraplegiaHPOHP:0001258
- 1 of 1 reported patient
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.
- PEX3HGNC:8858
- Strong · G2P · Autosomal recessive · 2024