COG8-congenital disorder of glycosylation (COG8-CDG) is a very rare genetic disease. It happens when the COG8 gene does not work in the normal way. This gene ...

Component of oligomeric Golgi complex 7 congenital disorder of glycosylation (COG7-CDG) is a very rare genetic disease that affects how the body adds sugar ...

Carbohydrate deficient glycoprotein syndrome type IIe is an extremely rare inherited disease of sugar processing inside the body’s cells. In today’s names it ...

COG7-congenital disorder of glycosylation (COG7-CDG) is a very rare inherited disease that starts before birth and affects almost every part of the body. In ...

Component of oligomeric Golgi complex 6–congenital disorder of glycosylation (short name COG6-CDG) is a very rare genetic disease that affects how sugar chains ...

COG6-congenital disorder of glycosylation (COG6-CDG, also called CDG2L) is a very rare genetic disease. It affects how the body adds sugar chains (glycans) to ...

Component of oligomeric Golgi complex 5 congenital disorder of glycosylation (COG5-CDG) is a very rare inherited disease. It belongs to a group of conditions ...

Carbohydrate-deficient glycoprotein syndrome type III is an old name for a group of very rare, inherited diseases where the body does not add sugar chains to ...

Component of oligomeric Golgi complex 4 congenital disorder of glycosylation (COG4-CDG) is a very rare inherited metabolic disease. It happens when the COG4 ...

Carbohydrate-deficient glycoprotein syndrome type 2j is now usually called COG4-congenital disorder of glycosylation (COG4-CDG) or CDG type IIj (CDG2J). It is ...

COG4-congenital disorder of glycosylation (COG4-CDG) is a very rare inherited disease. It happens when there are harmful changes (mutations) in a gene called ...

Component of oligomeric Golgi complex 1 congenital disorder of glycosylation (often shortened to COG1-CDG) is an extremely rare inherited disease in which the ...

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 ...

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 ...

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 ...