Charcot-Marie-Tooth disease X-linked recessive 2
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
MONDO:0018994
Charcot-Marie-Tooth disease type X
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CMTX 2
exact
CMTX2
exact
Charcot Marie Tooth disease X-linked recessive 2
exact
Charcot-Marie-Tooth disease X-linked recessive type 2
exact
Charcot-Marie-Tooth disease, X-linked recessive, 2
exact
Charcot-Marie-Tooth neuropathy, X-linked recessive, 2
exact
Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive
exact
X-linked Charcot-Marie-Tooth disease type 2
exact