Autosomal dominant Charcot-Marie-Tooth disease type 2J

Orpha code: 99943OMIM code: 607736

Definicja

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
Klasyfikacja

Disease

Synonimy
CMT2J
CMT2J
Kod ORPHA
99943
Kod OMIM
607736
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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