Rare Disease Library

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

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

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 5

Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Kallmann syndrome-heart disease syndrome

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

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

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

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