combined oxidative phosphorylation deficiency 36
MONDO:0054781Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 36 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
- Infantile onset
HPO, annotations 2026-09-02
Features
19 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypoglycemiaHPOHP:0001943
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Poor speechHPOHP:0002465
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 2 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 2 reported patients
- Exercise intoleranceHPOHP:0003546
- 1 of 2 reported patients
- ExodeviationHPOHP:0020049
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
Show the remaining 7
- HeadacheHPOHP:0002315
- 1 of 2 reported patients
- HyperalaninemiaHPOHP:0003348
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 2 reported patients
- MyalgiaHPOHP:0003326
- 1 of 2 reported patients
- Premature skin wrinklingHPOHP:0100678
- 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.
- MRPS2HGNC:14495
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2019
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022