x

Search for a rare disease

* (*) mandatory field

Other search option(s)

95 Result(s)

ORPHA:64746   (Group of disorders)   Autosomal dominant Charcot-Marie-Tooth disease type 2

More information

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

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

More information

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

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

More information

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

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

More information

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

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

More information

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

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

More information

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

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

More information

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

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

More information

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

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

More information

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

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

More information

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

ORPHA:91024   (Group of disorders)   Autosomal recessive axonal hereditary motor and sensory neuropathy

More information

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

ORPHA:324442   (Disorder)   Autosomal recessive axonal neuropathy with neuromyotonia

More information

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

ORPHA:476109   (Group of disorders)   Axonal hereditary motor and sensory neuropathy

More information

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

ORPHA:65753   (Group of disorders)   Charcot-Marie-Tooth disease type 1

More information

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

ORPHA:90658   (Disorder)   Charcot-Marie-Tooth disease type 1E

More information

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

ORPHA:98856   (Disorder)   Charcot-Marie-Tooth disease type 2B1

More information

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

ORPHA:101101   (Disorder)   Charcot-Marie-Tooth disease type 2B2

More information

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

ORPHA:228374   (Disorder)   Charcot-Marie-Tooth disease type 2B5

More information

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

ORPHA:101102   (Disorder)   Charcot-Marie-Tooth disease type 2H

More information

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

ORPHA:495274   (Disorder)   Charcot-Marie-Tooth disease type 2T

More information

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

ORPHA:64749   (Group of disorders)   Charcot-Marie-Tooth disease type 4

More information

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

ORPHA:363981   (Disorder)   Charcot-Marie-Tooth disease type 4B3

More information

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

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

More information

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

ORPHA:166   (Group of disorders)   Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

More information

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

ORPHA:64748   (Disorder)   Dejerine-Sottas syndrome

More information

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

ORPHA:476116   (Group of disorders)   Demyelinating hereditary motor and sensory neuropathy

More information

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

ORPHA:64751   (Disorder)   Hereditary motor and sensory neuropathy type 5

More information

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

ORPHA:90120   (Disorder)   Hereditary motor and sensory neuropathy type 6

More information

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

ORPHA:90119   (Disorder)   Hereditary motor and sensory neuropathy with acrodystrophy

More information

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

ORPHA:90117   (Disorder)   Hereditary motor and sensory neuropathy, Okinawa type

More information

Keyword(s) : Charcot-Marie-Tooth

ORPHA:476123   (Group of disorders)   Intermediate Charcot-Marie-Tooth disease

More information
ORPHA:476394   (Disorder)   PMP2-related Charcot-Marie-Tooth disease type 1

More information

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

ORPHA:538574   (Disorder)   Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

More information

Synonym(s) : Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

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

More information

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

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

More information

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

ORPHA:64747   (Group of disorders)   X-linked Charcot-Marie-Tooth disease

More information