Disease

spinal muscular atrophy with lower extremity predominant 1

Name: spinal muscular atrophy with lower extremity predominant 1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. spinal muscular atrophy with lower extremity predominance 1

Definition

A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

Synonyms

spinal muscular atrophy with lower extremity predominance 1

Cross References

MIM:158600

Parent Terms

spinal muscular atrophy with lower extremity predominant

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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