Neuropathy, Hereditary Motor and Sensory, with Deafness, Impaired Intellectual Development, and Absent Sensory Large Myelinated Fibers

Alias:

Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome

Hereditary Motor and Sensory Neuropathy with Hearing Loss, Intellectual Disability and Absent Sensory Large Myelinated Fibers

Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibers

Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers

Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome

Cmt-Deafness-Intellectual Disability Syndrome

Deafness with Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease and Deafness

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References Literature

Neuropathy, Hereditary Motor and Sensory, with Deafness, Impaired Intellectual Development, and Absent Sensory Large Myelinated Fibers, also known as charcot-marie-tooth disease-hearing loss-intellectual disability syndrome, is related to charcot-marie-tooth disease and deafness and hereditary sensory neuropathy. Related phenotypes are intellectual disability, mild and decreased nerve conduction velocity

Related ID：

MALACARDS：NRP072

OMIM：214370