" /> Amyotrophic lateral sclerosis 17 - CISMeF





Preferred Label : Amyotrophic lateral sclerosis 17;

Obsolete resource : true;

Moved to : 600795;

Symbol : ALS17;

CISMeF acronym : ALS17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyotrophic lateral sclerosis, chmp2b-related;

Description : ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CHMP FAMILY, member 2B gene (CHMP2B, 609512.0003);

Prefixed ID : 614696;

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Keyword's position in hierarchy(ies) : arborescence

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04/05/2025


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