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94 Result(s)

ORPHA:64746  Autosomal dominant Charcot-Marie-Tooth disease type 2

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Synonym(s) : Autosomal dominant axonal Charcot-Marie-Tooth disease

ORPHA:521414  Autosomal dominant Charcot-Marie-Tooth disease type 2DD

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Synonym(s) : ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:397735  Autosomal dominant Charcot-Marie-Tooth disease type 2U

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Synonym(s) : Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation

ORPHA:447964  Autosomal dominant Charcot-Marie-Tooth disease type 2V

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Synonym(s) : Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation

ORPHA:488333  Autosomal dominant Charcot-Marie-Tooth disease type 2W

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Synonym(s) : Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation

ORPHA:435387  Autosomal dominant Charcot-Marie-Tooth disease type 2Y

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Synonym(s) : Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation

ORPHA:466768  Autosomal dominant Charcot-Marie-Tooth disease type 2Z

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Synonym(s) : Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation

ORPHA:93114  Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

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Synonym(s) : Charcot-Marie-Tooth disease-nephropathy syndrome

ORPHA:466775  Autosomal recessive Charcot-Marie-Tooth disease type 2X

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Synonym(s) : Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

ORPHA:101097  Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

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Synonym(s) : Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

ORPHA:91024  Autosomal recessive axonal hereditary motor and sensory neuropathy

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Synonym(s) : Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

ORPHA:324442  Autosomal recessive axonal neuropathy with neuromyotonia

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Synonym(s) : Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia

ORPHA:476109  Axonal hereditary motor and sensory neuropathy

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Keyword(s) : Axonal Charcot-Marie-Tooth hereditary neuropathy

ORPHA:65753  Charcot-Marie-Tooth disease type 1

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Synonym(s) : Charcot-Marie-Tooth neuropathy type 1 ; Autosomal dominant demyelinating Charcot-Marie-Tooth disease

ORPHA:90658  Charcot-Marie-Tooth disease type 1E

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Synonym(s) : Charcot-Marie-Tooth disease-deafness syndrome

ORPHA:98856  Charcot-Marie-Tooth disease type 2B1

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Synonym(s) : Autosomal recessive Charcot-Marie-Tooth disease type 2B1

ORPHA:101101  Charcot-Marie-Tooth disease type 2B2

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Synonym(s) : Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2

ORPHA:228374  Charcot-Marie-Tooth disease type 2B5

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Synonym(s) : Autosomal recessive Charcot-Marie-Tooth disease type 2B5

ORPHA:101102  Charcot-Marie-Tooth disease type 2H

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Synonym(s) : Axonal Charcot-Marie-Tooth disease with pyramidal involvement

ORPHA:495274  Charcot-Marie-Tooth disease type 2T

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Synonym(s) : Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T

ORPHA:64749  Charcot-Marie-Tooth disease type 4

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Synonym(s) : Autosomal recessive demyelinating Charcot-Marie-Tooth

ORPHA:363981  Charcot-Marie-Tooth disease type 4B3

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Synonym(s) : Charcot-Marie-Tooth disease with focally folded myelin

ORPHA:90103  Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

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Keyword(s) : Charcot-Marie-Tooth disease-deafness-mental retardation syndrome

ORPHA:166  Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

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Synonym(s) : Charcot-Marie-Tooth hereditary neuropathy

ORPHA:64748  Dejerine-Sottas syndrome

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Synonym(s) : Charcot-Marie-Tooth disease type 3

ORPHA:476116  Demyelinating hereditary motor and sensory neuropathy

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Keyword(s) : Demyelinating Charcot-Marie-Tooth hereditary neuropathy

ORPHA:64751  Hereditary motor and sensory neuropathy type 5

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Synonym(s) : Charcot-Marie-Tooth disease-pyramidal features syndrome

ORPHA:90120  Hereditary motor and sensory neuropathy type 6

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Synonym(s) : Charcot-Marie-Tooth disease type 6

ORPHA:90119  Hereditary motor and sensory neuropathy with acrodystrophy

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Synonym(s) : Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy

ORPHA:90117  Hereditary motor and sensory neuropathy, Okinawa type

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Keyword(s) : Charcot-Marie-Tooth

ORPHA:476394  PMP2-related Charcot-Marie-Tooth disease type 1

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Synonym(s) : PMP2-related Charcot-Marie-Tooth neuropathy type 1

ORPHA:391351  SURF1-related Charcot-Marie-Tooth disease type 4

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Synonym(s) : Charcot-Marie-Tooth disease type 4K ; SURF1-related severe demyelinating Charcot-Marie-Tooth disease

ORPHA:90118  Severe early-onset axonal neuropathy due to MFN2 deficiency

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Synonym(s) : Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type