mitochondrial complex III deficiency nuclear type 8
Findings
No curated finding names mitochondrial complex III deficiency nuclear type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014364), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Progressive · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
40 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.
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 7 of 7 reported patients
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 6 of 6 reported patients
- Brisk reflexesHPOHP:0001348
- 6 of 6 reported patients
- ComaHPOHP:0001259
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
Show the remaining 28
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 6 of 6 reported patients
- TachypneaHPOHP:0002789
- 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.
- LYRM7HGNC:28072
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: mitochondrial complex III deficiency nuclear type 8
- Also called
- LYRM7 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in LYRM7