User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M (CMT2M)
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M (CMT2M) is a rare, inherited nerve disease that mainly damages the axon (the long wire) of peripheral ...

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to TFG Mutation
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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 ...

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Autosomal-Dominant Charcot-Marie-Tooth Disease Type 2 Due to TFG Mutation
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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 ...

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to Kinesin Family Member 5a Mutation
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Autosomal dominant CMT2 due to KIF5A mutation is a rare, inherited nerve disorder that mainly damages the axons (the long “wires”) of peripheral nerves. ...

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to KIF5A Mutation (CMT2-KIF5A)
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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 ...

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to Diacylglycerol O-Acyltransferase 2 (DGAT2) Mutation
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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 (DGAT2) mutation is an inherited nerve disease that damages the ...

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to DGAT2 Mutation
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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 ...

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Autosomal Dominant Cerebellar Ataxia–Hearing Loss–Narcolepsy Syndrome
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Autosomal dominant cerebellar ataxia–hearing loss–narcolepsy syndrome is a very rare, inherited brain and nerve disorder in which three main problems appear ...

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Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy
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Autosomal dominant cerebellar ataxia, deafness and narcolepsy is a very rare, inherited brain and nerve disease. “Autosomal dominant” means a single changed ...

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Autosomal Dominant Spinocerebellar Ataxias
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Autosomal dominant spinocerebellar ataxias are a family of inherited brain disorders that mainly affect the cerebellum—the balance and coordination center. ...

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Autosomal Dominant Hereditary Ataxia
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Autosomal dominant hereditary ataxia is a group of inherited brain disorders where the main problem is loss of balance and coordination because parts of the ...

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Autosomal Dominant Cerebellar Ataxia (ADCA)
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Autosomal dominant cerebellar ataxia (ADCA) is a family of inherited brain conditions where the cerebellum—the part that coordinates balance, speech, and ...

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Centronuclear Myopathy
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Centronuclear myopathy is a rare, inherited group of muscle diseases. In CNM, many muscle fibers show their nucleus in the center instead of the edge when a ...

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Autosomal Dominant Centronuclear Myopathy (AD-CNM) Linked to MYF6
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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 ...

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Autosomal Dominant Centronuclear Myopathy
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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 ...

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Bone Marrow Failure Syndrome Type 1 (BMFS1)
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Bone Marrow Failure Syndrome Type 1 (BMFS1) is a rare, autosomal-dominant inherited disorder where the bone marrow slowly stops making enough healthy blood ...

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Autosomal Dominant Aplastic Anemia and Myelodysplasia
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Autosomal dominant aplastic anaemia and myelodysplasia describes a family of inherited bone-marrow failure conditions in which a single faulty copy of a gene ...

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Autosomal Dominant Aplasia and Myelodysplasia (AD-AAM/AD-AMD)
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Autosomal dominant aplasia and myelodysplasia is a rare, inherited blood and bone-marrow disorder. “Autosomal dominant” means the condition can pass from a ...

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Autosomal dominant Alport Syndrome (ADAS)
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Autosomal dominant Alport syndrome (ADAS) is a genetic kidney condition caused by a single (heterozygous) disease-causing change in one copy of the COL4A3 or ...

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Agammaglobulinemia Non-Bruton Type
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Agammaglobulinemia, non-Bruton type (also called autosomal agammaglobulinemia) is a rare, inherited immune system condition where a child is born with a ...

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