Disease

autosomal dominant distal hereditary motor neuronopathy 8

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.

Synonyms

autosomal dominant benign distal spinal muscular atrophy
autosomal dominant congenital benign spinal muscular atrophy

Cross References

MIM:600175

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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