Disease

autosomal dominant distal hereditary motor neuronopathy 11

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

Synonyms

None

Cross References

MIM:620528

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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