Encephalopathy due to prosaposin deficiency is an ultra-rare genetic brain disease. It is a lysosomal storage disease in the group called sphingolipidoses. In ...

Combined PSAP deficiency is a very rare inherited disease in which the body cannot make a normal protein called prosaposin, so all four helper proteins ...

Familial congenital hypopituitarism is a rare inherited condition where a child is born with a pituitary gland that does not make enough of several important ...

Combined pancreatic lipase-colipase deficiency is a very rare inherited disease where the pancreas does not release enough of two special fat-digesting enzymes ...

Qrsl1-related combined oxidative phosphorylation defect is a very rare inherited disease that affects how the tiny “power stations” in our cells, called ...

Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect is a very rare, serious genetic disease that ...

Combined oxidative phosphorylation deficiency 40 (short name: COXPD40) is a very rare genetic disease that affects the mitochondria, the tiny “power stations” ...

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (COXPD) is a very rare genetic mitochondrial disease. In this condition, tiny ...

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect is a very rare genetic disease. In this condition, a baby is born with ...

Combined oxidative phosphorylation deficiency 34 (COXPD34) is a very rare inherited disease where the tiny “power stations” inside cells, called mitochondria, ...

Epistaxis is the medical word for a nosebleed. It means that blood is coming out from inside the nose, from small blood vessels in the lining of the nose. The ...

A nosebleed is when blood comes out from inside the nose because tiny blood vessels (capillaries) in the nose lining break and leak. Doctors call this ...

Combined oxidative phosphorylation deficiency caused by mutation in TXN2 is a very rare genetic disease that damages the tiny power stations in our cells, ...

Combined oxidative phosphorylation deficiency 29 (often shortened to COXPD29) is a very rare genetic disease that hurts how the body makes energy inside cells. ...

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect is a very rare genetic disease that affects newborn babies. In this disease, ...

Combined oxidative phosphorylation deficiency caused by mutation in SLC25A26 is a very rare inherited mitochondrial disease. In this disease, both copies of a ...

Combined oxidative phosphorylation deficiency (often shortened to COXPD) is a group of very rare, inherited mitochondrial diseases. In this condition, several ...

Combined oxidative phosphorylation deficiency caused by mutation in MRPL3 is a very rare genetic disease. It is a type of mitochondrial disease. In this ...

Combined oxidative phosphorylation defect type 9 (COXPD9) is a very rare inherited disease of the tiny “power stations” inside our cells, called mitochondria. ...

Combined oxidative phosphorylation deficiency caused by mutation in AARS2 is a very rare inherited disease that mainly damages the tiny “power stations” inside ...