Autosomal dominant Charcot-Marie-Tooth disease type 2M

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Name:
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Description:
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
ORPHAcode:
228179
Synonyms:
CMT2M
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14