metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
MONDO:0032736Mondo
Findings
No curated finding names metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 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
15 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.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- Exercise-induced myalgiaHPOHP:0003738
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Ragged-red muscle fibersHPOHP:0003200
- 1 of 1 reported patient
Show the remaining 3
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Weakness of facial musculatureHPOHP:0030319
- 1 of 1 reported patient
- RhabdomyolysisHPOHP:0003201
- 0 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.
- SLC25A42HGNC:28380
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of