Combined Oxidative Phosphorylation Deficiency 31; Coxpd31
Description
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.
Genes related to Combined Oxidative Phosphorylation Deficiency 31; Coxpd31
- MIPEP
Clinical Features
Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 31; Coxpd31
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Micrognathia
- Failure to thrive
- Cataract
- Myopathy
- Depressed nasal bridge
- Feeding difficulties
Incidence and onset information
— Not enough data available about incidence and published cases.
Accelerate your rare disease diagnosis with us
Combined Oxidative Phosphorylation Deficiency 31; Coxpd31 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
MIPEP.
By Fulgent Genetics Fulgent Genetics in United States.
MIPEP
Specificity
100 %
Genes
100 % |
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1 ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM