lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Findings
No curated finding names lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.
Definition from the Mondo Disease Ontology (MONDO:0014976), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
22 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.
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HyperalaninemiaHPOHP:0003348
- 4 of 4 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
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.
- MIPEPHGNC:7104
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Broad Center for Mendelian Genomics · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- Also called
- combined oxidative phosphorylation deficiency 31combined oxidative phosphorylation deficiency caused by mutation in MIPEPcombined oxidative phosphorylation deficiency type 31COXPD31MIPEP combined oxidative phosphorylation deficiency