Rare Disease Library

Charcot-Marie-Tooth disease type 1C

CMT1C

Charcot-Marie-Tooth disease type 1D

CMT1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Charcot-Marie-Tooth disease type 1F

CMT1F

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

Charcot-Marie-Tooth disease type 2P

CMT2P

Charcot-Marie-Tooth disease type 2R

CMT2R

Charcot-Marie-Tooth disease type 2S

CMT2S

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

Charcot-Marie-Tooth disease type 4

AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth

Charcot-Marie-Tooth disease type 4A

CMT4A

Charcot-Marie-Tooth disease type 4B1

CMT4B1

Charcot-Marie-Tooth disease type 4B2

CMT4B2

Charcot-Marie-Tooth disease type 4B3

CMT4B3 · Charcot-Marie-Tooth disease with focally folded myelin

Charcot-Marie-Tooth disease type 4C

CMT4C

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Charcot-Marie-Tooth disease type 4F

CMT4F

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Charcot-Marie-Tooth disease type 4H

CMT4H

Charcot-Marie-Tooth disease type 4J

CMT4J

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

DNAJB2-related Charcot-Marie-Tooth disease type 2

DNAJB2-related CMT2

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

Hereditary motor and sensory neuropathy with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

Severe early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

X-linked Charcot-Marie-Tooth disease type 1

CMT1X · CMTX1

X-linked Charcot-Marie-Tooth disease type 2

CMTX2

X-linked Charcot-Marie-Tooth disease type 3

CMT3X · CMTX3

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

X-linked Charcot-Marie-Tooth disease type 5

CMT5X · CMTX5

X-linked Charcot-Marie-Tooth disease type 6

CMT6X · CMTX6