infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Findings
No curated finding names infantile hypertrophic cardiomyopathy due to MRPL44 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
Definition from the Mondo Disease Ontology (MONDO:0014162), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
- Microvesicular hepatic steatosisHPOHP:0001414
- 2 of 2 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 2 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 2 reported patients
- Increased circulating lactate concentration
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.
- MRPL44HGNC:16650
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- Also called
- combined oxidative phosphorylation defect type 16combined oxidative phosphorylation deficiency caused by mutation in MRPL44combined oxidative phosphorylation deficiency type 16COXPD16MRPL44 combined oxidative phosphorylation deficiency