Disease #04514 (CMT-2S (Charcot-Marie-Tooth disease, axonal, type 2S (CMT-2S)), OMIM:616155)

Official abbreviation CMT-2S
Name Charcot-Marie-Tooth disease, axonal, type 2S (CMT-2S)
OMIM ID 616155
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene IGHMBP2
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Individuals

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00080874 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - CMT-2S Charcot-Marie-Tooth disease, axonal, type 2S (OMIM:616155) IGHMBP2 IGHMBP2 1 1 Daniel Trujillano
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