Disease #02587 (CMTDIB;CMT2M (Charcot-Marie-Tooth disease, dominant intermediate, type B (CMTDIB, axonal, type 2M (CMT-2M))), OMIM:606482)

Official abbreviation CMTDIB;CMT2M
Name Charcot-Marie-Tooth disease, dominant intermediate, type B (CMTDIB, axonal, type 2M (CMT-2M))
OMIM ID 606482
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene DNM2
Associated tissues -
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Individuals

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00398775 856 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing M - Italy - >67y - - - CMTDIB;CMT2M Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762) DNM2 DNM2 1 1 Yvet den Hartog
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