Charcot-Marie-Tooth Disease, Axonal, Type 2h (CMT2H)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2h

Cmt2h

Axonal Charcot-Marie-Tooth Disease with Pyramidal Involvement

Charcot-Marie-Tooth Disease Type 2h

Autosomal Recessive Axonal Cmt4c2

Ar-Cmt2c

Charcot-Marie-Tooth Neuropathy, Axonal, with Pyramidal Features, Autosomal Recessive

Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive

Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy with Pyramidal Features

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Pyramidal Features

Charcot-Marie-Tooth Disease, Type 2h

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2h, also known as charcot-marie-tooth disease axonal type 2h, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2h is CMT2H (Charcot-Marie-Tooth Disease, Axonal, Type 2H), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Related phenotypes are distal muscle weakness and pes cavus

Related ID：

MALACARDS：CHR545

OMIM：607731