Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

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.

Also known as: COXPD31, MIPEP combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 31, combined oxidative phosphorylation deficiency caused by mutation in MIPEP, combined oxidative phosphorylation deficiency type 31

13 clinical trials for this condition and its sub-types, 0 tagged with Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome itself.