Disease

autosomal recessive distal hereditary motor neuronopathy 8

Definition

An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.

Synonyms

sorbitol dehydrogenase deficiency with peripheral neuropathy
SORDD

Cross References

MIM:618912

Parent Terms

autosomal recessive 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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