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Autosomal recessive intermediate "Charcot-Marie-Tooth" disease
- ... SENSORY, RUSSE TYPE; HMSNR NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. GAN Giant axonal disease Genetic Testing Registry: Giant axonal neuropathy 1 Giant ...
