Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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Rare Disease Database Reports Additional Rare Disease Briefs
Charcot-Marie-Tooth disease X-linked dominant 1

Also known as: CMT1X, CMT2, CMT2, formerly, CMTX, CMTX 1, CMTX1, Charcot Marie Tooth disease X-linked 1, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant type 1, Charcot-Marie-Tooth disease type X caused by mutation in GJB1, Charcot-Marie-Tooth disease, X-linked dominant, 1, Charcot-Marie-Tooth disease, X-linked dominant, type 1, Charcot-Marie-Tooth disease, X-linked, 1, Charcot-Marie-Tooth neuropathy X type 1, Charcot-Marie-Tooth neuropathy X-linked dominant 1, Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant, Charcot-Marie-Tooth neuropathy, X-linked, 1, Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, GJB1 Charcot-Marie-Tooth disease type X, HMSN, X-linked, X-linked Charcot-Marie-Tooth disease type 1, hereditary motor and sensory neuropathy, X-linked

Charcot-Marie-Tooth disease X-linked dominant 6

Also known as: CMT6X, CMTX6, Charcot-Marie-Tooth disease X-linked dominant type 6, Charcot-Marie-Tooth disease, X-linked dominant, 6, Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant, Charcot-Marie-Tooth disease, X-linked dominant, type 6, Charcot-Marie-Tooth neuropathy X-linked dominant 6, Charcot-Marie-Tooth neuropathy, X-linked dominant, 6, X-linked Charcot-Marie-Tooth disease type 6

Charcot-Marie-Tooth disease X-linked recessive 2

Also known as: CMTX 2, CMTX2, Charcot Marie Tooth disease X-linked recessive 2, Charcot-Marie-Tooth disease X-linked recessive type 2, Charcot-Marie-Tooth disease, X-linked recessive, 2, Charcot-Marie-Tooth neuropathy X-linked recessive 2, Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive, X-linked Charcot-Marie-Tooth disease type 2

Charcot-Marie-Tooth disease X-linked recessive 3

Also known as: CMT3X, CMTX 3, CMTX3, Charcot Marie Tooth disease X-linked recessive 3, Charcot-Marie-Tooth disease X-linked recessive type 3, Charcot-Marie-Tooth disease, X-linked recessive, 3, Charcot-Marie-Tooth neuropathy X-linked recessive 3, Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive, X-linked Charcot-Marie-Tooth disease type 3

Charcot-Marie-Tooth disease X-linked recessive 4

Also known as: CMT4X, CMTX 4, CMTX4, COWCK, Charcot-Marie-Tooth disease X-linked recessive type 4, Charcot-Marie-Tooth disease with deafness and intellectual disability, Charcot-Marie-Tooth disease with deafness and mental retardation, Charcot-Marie-Tooth disease, X-linked recessive, 4, Cowchock syndrome, X-linked recessive, NADMR, NAMSD, X-linked Charcot-Marie-Tooth disease type 4, axonal motor sensory neuropathy with deafness and intellectual disability, axonal motor sensory neuropathy with deafness and mental retardation, cowchock syndrome, neuropathy, axonal motor-sensory with deafness and intellectual disability, neuropathy, axonal motor-sensory with deafness and mental retardation, neuropathy, axonal motor-sensory, with deafness and intellectual disability, neuropathy, axonal motor-sensory, with deafness and mental retardation

Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Also known as: Charcot-Marie-Tooth disease and deafness, Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome, Charcot-Marie-tooth disease-deafness-intellectual disability syndrome, deafness with Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers, hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres, neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers, neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres, neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers, neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres

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