Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare, inherited nerve disease. “Autosomal dominant” means a single faulty gene ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal-dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare, inherited nerve disease that affects the axons (the “wires”) of peripheral ...
Autosomal dominant CMT2 due to KIF5A mutation is a rare, inherited nerve disorder that mainly damages the axons (the long “wires”) of peripheral nerves. ...
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (often shortened to CMT2-KIF5A) is a hereditary nerve condition that mainly damages ...
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 (DGAT2) mutation is an inherited nerve disease that damages the ...
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to DGAT2 Mutation is a very rare, inherited nerve disease. It affects the axons—the long “wires” of ...
Autosomal dominant cerebellar ataxia–hearing loss–narcolepsy syndrome is a very rare, inherited brain and nerve disorder in which three main problems appear ...
Autosomal dominant cerebellar ataxia, deafness and narcolepsy is a very rare, inherited brain and nerve disease. “Autosomal dominant” means a single changed ...
Autosomal dominant spinocerebellar ataxias are a family of inherited brain disorders that mainly affect the cerebellum—the balance and coordination center. ...
Autosomal dominant centronuclear myopathy (AD-CNM) linked to MYF6 is a rare, inherited muscle disease. In CNM, many muscle fibers show their nuclei in the ...
Autosomal dominant centronuclear myopathy is a rare inherited muscle disease. It mainly happens when a single copy of a changed gene (often DNM2) is passed ...
Autosomal dominant aplasia and myelodysplasia is a rare, inherited blood and bone-marrow disorder. “Autosomal dominant” means the condition can pass from a ...
Autosomal agammaglobulinemia is a group of inherited immune system disorders in which a baby is born with a major problem making B cells (the white blood cells ...
Behçet-like disease due to HA20 is a rare, inherited autoinflammatory condition caused by having only one working copy of a gene called TNFAIP3, which makes a ...
Autoinflammatory syndrome, familial Behçet-like 1 (AIFBL1) is a rare, inherited immune-system disorder that causes repeated episodes of whole-body ...
Immune dysregulation syndrome is an umbrella term for conditions where the body’s immune system has trouble switching off inflammation or keeping a healthy ...
Autoinflammation-PLCγ2-associated Antibody Deficiency and Immune Dysregulation (APLAID) is a very rare genetic immune disease. It happens when a change ...
Schmidt syndrome is a lifelong autoimmune condition where the body’s defense system mistakenly attacks more than one hormone-making gland at the same time. The ...
This condition is a cluster of autoimmune disorders that tend to occur together in the same person. The “core” problem is autoimmune Addison disease (the ...
Whitaker syndrome is a rare, inherited autoimmune disease in which the body’s defense system attacks several of its own glands and tissues. The classic picture ...
