COG1-congenital disorder of glycosylation (COG1-CDG) is an ultra-rare genetic disease. It belongs to the big group called congenital disorders of glycosylation (CDG). In this condition, a gene named ...
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 the joints (pterygia), and serious ...
Hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features is a rare genetic condition that doctors now group under Coffin–Siris syndrome 1 (CSS1) or ARID1B-related ...
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 make a protein that is part of a big ...
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 starts before birth and is lifelong. ...
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 belongs to a wider syndrome called SOFT ...
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 digit) and many other 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 usually have learning and developmental ...
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 birth and is caused by a change ...
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 learning and thinking problems ...
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 name CODAS, which stands for cerebral, ...
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 to a group of conditions called Cockayne ...
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 the brain, eyes, bones, skin, and growth. ...
Cockayne syndrome caused by mutation in ercc8 is a rare genetic disease that affects many parts of the body, especially the brain, eyes, ears, skin, and growth. In this answer, we will focus on ...
Classical Cockayne syndrome type 1 is a rare inherited disease. It mainly affects how a child grows and how the brain, eyes, ears, skin, and other organs work over time. Children are usually born ...
Lissencephaly type 5 (often written as LIS5) is a very rare genetic brain problem where the surface of the brain does not form normal folds and grooves before birth. Instead, the outer layer of the ...
Cobb syndrome is a very rare condition where a child or adult has abnormal blood vessels in the skin and in the spine in the same body segment (metamere). These abnormal vessels are usually ...
Cerebroretinal microangiopathy with calcifications and cysts (often shortened to CRMCC) is a very rare inherited disorder that mainly affects the brain and the eyes, and can also affect bones, blood, ...
Gentile syndrome is a very rare genetic disease. It belongs to the same family of diseases as Joubert syndrome, which affects the brain, and congenital hepatic fibrosis, which affects the liver. In ...
Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis– is another name for a rare genetic condition called COACH syndrome. The word COACH is made from ...
