hypotonia with lactic acidemia and hyperammonemia
Findings
No curated finding names hypotonia with lactic acidemia and hyperammonemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.
Definition from the Mondo Disease Ontology (MONDO:0012718), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
8 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.
- Decreased activity of mitochondrial ATP synthase complexHPOHP:0011925
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Fetal skin edemaHPOHP:0025672
- 3 of 3 reported patients · Third trimester onset
- Generalized hypotoniaHPOHP:0001290
- 3 of 3 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.
- MRPS22HGNC:14508
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hypotonia with lactic acidemia and hyperammonemia
- Also called
- combined oxidative phosphorylation defect type 5combined oxidative phosphorylation deficiency caused by mutation in MRPS22combined oxidative phosphorylation deficiency type 5COXPD5MRPS22 combined oxidative phosphorylation deficiency