Disease #00809 (CMT2O (Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O)), OMIM:614228)

Official abbreviation CMT2O
Name Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O)
OMIM ID 614228
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene DYNC1H1
Associated tissues -
Disease features -
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00377144 Huashan DYNC1H1-001 - - M no China Han - - - - CMT2O muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); motor delay (HP:0001270); lordosis (HP:0003307); no intellectual disability (-HP:0001249) - DYNC1H1 1 1 Xiangjun Chen
00377145 Huashan DYNC1H1-002 - - F no China Han - - - - CMT2O distal amyotrophy (HP:0003693); muscle weakness (HP:0001324); motor delay (HP:0001270); pes cavus (HP:0001761); no intellectual disability (-HP:0001249) - DYNC1H1 1 1 Xiangjun Chen
00398815 962 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing M - Italy - >36y - - - CMT2O Demyelinating peripheral neuropathy (HP:0007108), Decreased nerve conduction velocity (HP:0000762) DYNC1H1 DYNC1H1 1 1 Yvet den Hartog
00398816 731 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing F - Italy - >63y - - - CMT2O Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762) DYNC1H1 DYNC1H1 1 1 Yvet den Hartog
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