mitochondrial complex I deficiency, nuclear type 19
MONDO:0032624Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 19 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
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AthetosisHPOHP:0002305
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- 1 of 1 reported patient · Neonatal onset
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- IrritabilityHPOHP:0000737
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient · Congenital onset
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient · Juvenile onset
Show the remaining 1
- Secondary microcephalyHPOHP:0005484
- 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.
- FOXRED1HGNC:26927
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025