mitochondrial complex I deficiency, nuclear type 21
MONDO:0032625Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 21 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
- Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- LeukodystrophyHPOHP:0002415
- 1 of 1 reported patient
- MyopathyHPOHP:0003198
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Ragged-red muscle fibersHPOHP:0003200
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 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.
- NUBPLHGNC:20278
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025