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Metadata
ID DOID:0111202
Name distal hereditary motor neuronopathy type 7B
Definition A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1.
https://www.ncbi.nlm.nih.gov/pubmed/12627231
Xrefs

OMIM:607641

Synonyms

DHMN7B [EXACT]

distal hereditary motor neuropathy type VIIB [EXACT]

distal spinal muscular atrophy with vocal cord paralysis type 7B [EXACT]

Harper-Young myopathy [EXACT]

HMN VIIB [EXACT]

HMN7B [EXACT]

Parent Relationships

is_a distal hereditary motor neuronopathy type 7

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