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.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
MONDO:0100547
cardiogenetic disease
is_a
COXPD31
exact
MIPEP combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 31
exact
combined oxidative phosphorylation deficiency caused by mutation in MIPEP
exact
combined oxidative phosphorylation deficiency type 31
exact
SPAC1F3.10c