neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
MONDO:0859304Mondo
Findings
No curated finding names neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 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 · Childhood onset
HPO, annotations 2026-09-02
Features
33 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.
- Visual impairmentHPOHP:0000505
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 17 of 18 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 8 reported patients
- Optic atrophyHPOHP:0000648
- 5 of 6 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 11 of 14 reported patients
- AtaxiaHPOHP:0001251
- 7 of 9 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 7 of 10 reported patients
- Developmental regressionHPOHP:0002376
- 9 of 13 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 8 of 12 reported patients
- Opto-chiasmatic atrophyHPOHP:0034008
- 4 of 6 reported patients
- SeizureHPOHP:0001250
- 10 of 15 reported patients
- HypotoniaHPOHP:0001252
- 11 of 18 reported patients
Show the remaining 21
- NystagmusHPOHP:0000639
- 7 of 13 reported patients
- SpasticityHPOHP:0001257
- 8 of 15 reported patients
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 5 of 11 reported patients
- CataractHPOHP:0000518
- 5 of 11 reported patients
- Babinski signHPOHP:0003487
- 4 of 9 reported patients
- Brisk reflexesHPOHP:0001348
- 4 of 10 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.
- LETM1HGNC:6556
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · G2P · Autosomal recessive · 2023
Where it sits
- A kind of