autosomal dominant Charcot-Marie-Tooth disease type 2M
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis 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.
MONDO:0011674
Charcot-Marie-Tooth disease dominant intermediate B
is_a
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT2M
exact