Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atroph

Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atroph(来自ICD-11)

别称:

Bicd2-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures

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Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

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Basic Information

Medical Symptom

Gene & Mutation

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Disease Model

References Literature

Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atroph, also known as bicd2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and spinal muscular atrophy. An important gene associated with Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atroph is BICD2 (BICD Cargo Adaptor 2). Affiliated tissues include brain, and related phenotypes are waddling gait and difficulty walking

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