User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Autosomal Recessive Cerebellar Ataxia due to CWF19-like Cell Cycle Control Factor 1 (CWF19L1) Deficiency
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Autosomal recessive cerebellar ataxia due to CWF19-like cell cycle control factor 1 (CWF19L1) deficiency is a rare, inherited brain disorder that mainly ...

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Autosomal Recessive Spinocerebellar Ataxia 17 (SCAR17)
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Autosomal Recessive Spinocerebellar Ataxia 17 (SCAR17) is a very rare, inherited brain condition that mainly affects the cerebellum—the part that controls ...

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SCAR16 – Spinocerebellar Ataxia Autosomal Recessive Type 16
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SCAR16 - Spinocerebellar Ataxia Autosomal Recessive Type 16 is a rare, inherited brain disorder. It mainly damages the cerebellum, the part of the brain that ...

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Autosomal Recessive Cerebellar Ataxia Caused by STIP1 Homology and U-box Containing Protein-1 (STUB1/CHIP) Deficiency
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Autosomal recessive cerebellar ataxia caused by STIP1 homology and U-box containing protein-1 (STUB1/CHIP) deficiency is a genetic form of cerebellar ataxia. ...

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Autosomal Recessive Cerebellar Ataxia Caused by Mutations in STUB1 (SCAR16)
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Autosomal Recessive Cerebellar Ataxia Caused by Mutations in STUB1 (SCAR16) is a rare, inherited brain disease. It mainly harms the cerebellum, the part of the ...

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Autosomal Recessive Spinocerebellar Ataxia 16 (SCAR16)
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Autosomal recessive spinocerebellar ataxia 16 (SCAR16) is a rare, inherited brain disorder that mainly damages the cerebellum, the balance and coordination ...

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Intellectual Disability Syndrome Due to Run and Cysteine Rich Domain Containing Beclin 1 Interacting Protein Deficiency
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Intellectual Disability Syndrome Due to Run and Cysteine Rich Domain Containing Beclin 1 Interacting Protein Deficiency is a very rare, inherited brain ...

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Autosomal Recessive Cerebellar Ataxia–Epilepsy–Intellectual Disability Syndrome due to RUBCN Deficiency
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Autosomal recessive cerebellar ataxia–epilepsy–intellectual disability syndrome due to RUBCN deficiency is a very rare inherited brain disorder. It usually ...

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Autosomal Recessive Spinocerebellar Ataxia 15 (SCAR15)
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Autosomal Recessive Spinocerebellar Ataxia 15 (SCAR15) is a very rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that ...

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SPTBN2 Autosomal Recessive Cerebellar Ataxia
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SPTBN2 autosomal recessive cerebellar ataxia is a rare, inherited brain disorder that mainly affects the cerebellum—the part of the brain that controls ...

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Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 (SPARCA1)
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Spectrin-associated autosomal recessive cerebellar ataxia type 1 (SPARCA1) is a rare, inherited brain disorder. “Autosomal recessive” means a child is affected ...

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Infantile-Onset Spinocerebellar Ataxia–Psychomotor Delay Syndrome (IOSCA-Type Presentation)
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Infantile-onset spinocerebellar ataxia is a genetic condition that appears after a period of normal early development. In early childhood, children begin to ...

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Autosomal Recessive Cerebellar Ataxia–Cognitive Defect Syndrome
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Autosomal recessive cerebellar ataxia–cognitive defect syndrome is a group of rare genetic diseases. A child gets one faulty copy of a gene from each parent. ...

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Autosomal Recessive Cerebellar Ataxia Caused by SPTBN2 Mutations
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Autosomal recessive cerebellar ataxia caused by SPTBN2 mutations is a childhood-onset cerebellar ataxia caused by pathogenic variants in both copies of the ...

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Ataxie Spinocérébelleuse Début Infantile AVEC Retard Psychomoteur
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Ataxie Spinocérébelleuse à début infantile avec retard psychomoteur is most often called autosomal recessive spinocerebellar ataxia type 14 (SCAR14) and is ...

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Autosomal Recessive Spinocerebellar Ataxia 14 (SCAR14)
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Autosomal recessive spinocerebellar ataxia 14 (SCAR14) is a rare, inherited brain disorder. It mainly affects the cerebellum, which controls balance, movement, ...

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WWOX Autosomal Recessive Cerebellar Ataxia–Epilepsy–Intellectual Disability Syndrome
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WWOX autosomal recessive cerebellar ataxia–epilepsy–intellectual disability syndrome is a rare, inherited brain disorder that starts in infancy or early ...

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Autosomal Recessive Cerebellar Ataxia–Epilepsy–Intellectual Disability Syndrome due to WWOX Deficiency
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Autosomal Recessive Cerebellar Ataxia–Epilepsy–Intellectual Disability Syndrome due to WWOX Deficiency is a rare, inherited brain disorder. A baby is born with ...

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