Autosomal dominant Charcot-Marie-Tooth disease type 2J

Orpha code: 99943OMIM code: 607736

Definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

Disease data
Classification

Disease

Synonyms
CMT2J
CMT2J
ORPHA code
99943
OMIM code
607736
ICD10 code
G60.0
ICD11 code
-

No additional description.

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