COWCHOCK SYNDROME

Source:http://linkedlifedata.com/resource/umls/id/C0795910

JABL: An X-linked form of Charcot-Marie-Tooth syndrome (sensory and motor neuropathy with atrophy of the peroneal muscle advancing to involve other distal muscles of the leg and arm) associated with deafness and mental retardation and onset in infancy with distal weakness and sensory loss in late childhood or adolescence leading to moderate disability in adulthood.

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