Carbohydrate-deficient glycoprotein syndrome type IIg is now usually called COG1-congenital disorder of glycosylation (COG1-CDG, CDG-IIg). It is an ultra-rare, ...

COG1-congenital disorder of glycosylation (COG1-CDG) is an ultra-rare genetic disease. It belongs to the big group called congenital disorders of glycosylation ...

Pena-Shokeir syndrome type 2 is a very rare genetic condition in which a baby has very little movement before birth, many stiff joints, webbing of skin across ...

Cerebro-oculo-facio-skeletal (COFS) syndrome is a very rare genetic disease that affects the brain, eyes, face and bones from before birth. It is present at ...

Hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features is a rare genetic condition that doctors now group under Coffin–Siris ...

ARID1B-related BAFopathy is a rare genetic brain-development condition. It happens when there are changes (variants) in a gene called ARID1B. This gene helps ...

Coffin-Siris syndrome 1 is a very rare genetic condition that affects how a child grows and develops, especially the brain, face, fingers, and toes. It usually ...

Short stature-onychodysplasia is a very rare genetic condition where a person is very short in height and has poorly formed nails (onychodysplasia). It usually ...

Fifth digit syndrome is another name for Coffin–Siris syndrome. It is a rare genetic condition. It mainly affects the little finger or little toe (the fifth ...

Dwarfism-onychodysplasia is another name for a rare genetic condition called Coffin–Siris syndrome. It is a disorder that affects many parts of the body, ...

Coffin-Siris syndrome is a rare genetic condition that affects many parts of the body, especially the brain, face, fingers, toes, hair, and growth. Children ...

X-linked dominant Coffin-Lowry syndrome is a rare genetic condition that affects how the brain, bones, and other body systems grow and work. It is present from ...

Coffin-Lowry syndrome is a rare genetic condition that affects many parts of the body, especially the brain, face, bones, heart, and muscles. It usually causes ...

Coenzyme Q10 deficiency disease is a rare health problem where the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a natural ...

Coenzyme Q10 deficiency means the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a fat-like substance that sits inside tiny ...

Codas syndrome is a very rare genetic disease that affects many parts of the body, especially the brain, eyes, teeth, ears, and bones. Doctors use the short ...

Fetal encasement syndrome, also called cocoon syndrome, is a very rare and very severe problem that happens very early in pregnancy when the baby is still an ...

Cocoon syndrome usually means abdominal cocoon syndrome, also called sclerosing encapsulating peritonitis or encapsulating peritoneal sclerosis. In this ...

Cockayne syndrome type 3 is a very rare, inherited disease that affects many parts of the body, especially the brain, eyes, ears, skin, and growth. It belongs ...

Cockayne syndrome type 2 is a very rare, very severe genetic disease that starts at birth or even before birth. It affects many parts of the body, especially ...