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Charcot-Marie-Tooth disease type 4H | RareConnect | RareConnect.io

/Charcot-Marie-Tooth disease type 4

/Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4H

Rare Disease

MONDO:0012250

Also Known As

CMT4HCharcot-Marie-Tooth disease type 4 caused by mutation in FGD4Charcot-Marie-Tooth disease type 4HCharcot-Marie-Tooth neuropathy type 4HFGD4 Charcot-Marie-Tooth disease type 4autosomal recessive Charcot-Marie-Tooth disease type 4Hautosomal recessive demyelinating Charcot-Marie-Tooth disease type 4HCharcot-Marie-Tooth disease, autosomal recessive, type 4HCharcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4HCharcot-Marie-Tooth disease, type 4HCharcot-Marie-Tooth neuropathy, type 4H

Definition

Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:609311 ↗

Orphanet

Orphanet:99954 ↗

GARD

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Charcot-Marie-Tooth disease type 4C

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Charcot-Marie-Tooth disease type 4B2

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Charcot-Marie-Tooth disease type 4E

MONDO:0011527

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