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 ...

COG5-congenital disorder of glycosylation (COG5-CDG) is a very rare genetic disease. It happens when the COG5 gene does not work properly. This gene helps a ...

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 a very rare inherited disease that affects how the body adds sugar chains (glycans) onto proteins ...

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, ...