User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Cogan Syndrome
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Cogan syndrome is a rare disease where the body’s own defense system (the immune system) wrongly attacks parts of the eyes and inner ears. This attack causes ...

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Component of Oligomeric Golgi Complex 8 Congenital Disorder of Glycosylation (COG8-CDG)
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Component of oligomeric Golgi complex 8 congenital disorder of glycosylation (often shortened to COG8-CDG) is a very rare inherited disease that affects how ...

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Carbohydrate Deficient Glycoprotein Syndrome Type IIh
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Carbohydrate deficient glycoprotein syndrome type IIh is a very rare inherited metabolic disease. It belongs to a group of diseases called congenital disorders ...

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COG8-Congenital Disorder of Glycosylation (COG8-CDG)
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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 ...

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Component of Oligomeric Golgi Complex 7 Congenital Disorder of Glycosylation (COG7-CDG)
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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 ...

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Carbohydrate Deficient Glycoprotein Syndrome Type IIe
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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 ...

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COG7-Congenital Disorder of Glycosylation (COG7-CDG)
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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 ...

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Component of Oligomeric Golgi Complex 6–Congenital Disorder of Glycosylation (COG6-CDG)
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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 ...

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COG6-Congenital Disorder of Glycosylation (COG6-CDG, CDG2L)
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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 ...

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Component of Oligomeric Golgi Complex 5 Congenital Disorder of Glycosylation (COG5-CDG)
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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 ...

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Carbohydrate-Deficient Glycoprotein Syndrome Type III
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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 ...

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COG5-Congenital Disorder of Glycosylation (COG5-CDG)
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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 ...

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

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

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COG4-Congenital Disorder of Glycosylation (COG4-CDG)
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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 ...

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

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COG1 Congenital Disorder of Glycosylation (COG1-CDG)
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COG1 congenital disorder of glycosylation (COG1-CDG) is a very rare inherited disease that affects how the body adds sugar chains (glycans) onto proteins ...

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

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

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Pena-Shokeir Syndrome Type 2
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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 ...

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