Disease

autosomal dominant distal hereditary motor neuronopathy 13

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.

Synonyms

None

Cross References

MIM:619112

Parent Terms

autosomal dominant distal hereditary motor neuronopathy

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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