Disease

autosomal dominant distal hereditary motor neuronopathy 14

Name: autosomal dominant distal hereditary motor neuronopathy 14
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. distal hereditary motor neuronopathy type 7B HMN7B Harper-Young myopathy HMN VIIB DHMN7B distal spinal muscular atrophy with vocal cord paralysis type 7B distal hereditary motor neuropathy type VIIB

Definition

An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.

Synonyms

DHMN7B
distal hereditary motor neuronopathy type 7B

Cross References

MIM:607641

Parent Terms

autosomal dominant distal hereditary motor neuronopathy

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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