Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
Charcot-Marie-Tooth disease axonal type 2U

Also known as: CMT2U, Charcot-Marie-Tooth disease type 2 caused by mutation in MARS, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U, Charcot-Marie-Tooth disease, axonal, type 2U, Charcot-Marie-Tooth neuropathy type 2U, Charcot-Marie-Tooth neuropathy, type 2U, MARS Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation, autosomal dominant Charcot-Marie-Tooth disease type 2U, autosomal dominant axonal Charcot-Marie-Tooth disease type 2U

Charcot-Marie-Tooth disease axonal type 2V

Also known as: CMT2V, Charcot-Marie-Tooth disease caused by mutation in NAGLU, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V, Charcot-Marie-Tooth disease, axonal, type 2V, Charcot-Marie-Tooth neuropathy type 2V, Charcot-Marie-Tooth neuropathy, type 2V, NAGLU Charcot-Marie-Tooth disease, autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation, autosomal dominant Charcot-Marie-Tooth disease type 2V, autosomal dominant axonal Charcot-Marie-Tooth disease type 2V, hereditary adult-onset painful axonal polyneuropathy

Charcot-Marie-Tooth disease axonal type 2X

Also known as: ARCMT2X, CMT2X, Charcot-Marie-Tooth disease caused by mutation in SPG11, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X, Charcot-Marie-Tooth disease, axonal, type 2X, Charcot-Marie-Tooth disease, axonal, type 2x, Charcot-Marie-Tooth neuropathy type 2X, Charcot-Marie-Tooth neuropathy, type 2X, SPG11 Charcot-Marie-Tooth disease, autosomal recessive Charcot Marie Tooth disease type 2X, autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation, autosomal recessive Charcot-Marie-Tooth disease type 2X, autosomal recessive axonal Charcot-Marie-Tooth disease type 2X

Charcot-Marie-Tooth disease axonal type 2Z

Also known as: CMT2Z, Charcot-Marie-Tooth disease caused by mutation in MORC2, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z, Charcot-Marie-Tooth disease, axonal, type 2Z, Charcot-Marie-Tooth disease, axonal, type 2z, Charcot-Marie-Tooth neuropathy type 2Z, Charcot-Marie-Tooth neuropathy, type 2Z, MORC2 Charcot-Marie-Tooth disease, autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation, autosomal dominant Charcot-Marie-Tooth disease type 2Z, autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z

Charcot-Marie-Tooth disease dominant intermediate B

Also known as: CMTDI1, CMTDIB, Charcot-Marie-Tooth disease caused by mutation in DNM2, Charcot-Marie-Tooth disease dominant intermediate type B, Charcot-Marie-Tooth disease, axonal type 2M, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M, Charcot-Marie-Tooth disease, axonal, type 2M, Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia, Charcot-Marie-Tooth disease, dominant Intermediate type B, Charcot-Marie-Tooth disease, dominant intermediate B, Charcot-Marie-Tooth neuropathy dominant intermediate B, Charcot-Marie-Tooth neuropathy, axonal, type 2M, Charcot-Marie-Tooth neuropathy, dominant Intermediate B, Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia, Cmtdi1, DI-CMTB, DNM2 Charcot-Marie-Tooth disease, DNM2-related intermediate Charcot-Marie-Tooth neuropathy, Di-CMTB, autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Charcot-Marie-Tooth disease dominant intermediate C

Also known as: CMTDIC, Charcot-Marie-Tooth disease caused by mutation in YARS, Charcot-Marie-Tooth disease dominant intermediate type C, Charcot-Marie-Tooth disease, dominant Intermediate type C, Charcot-Marie-Tooth disease, dominant intermediate C, Charcot-Marie-Tooth neuropathy dominant intermediate C, Charcot-Marie-Tooth neuropathy, dominant Intermediate C, DI-CMTC, Di-Cmtc, YARS Charcot-Marie-Tooth disease, YARS-related intermediate Charcot-Marie-Tooth neuropathy, autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Charcot-Marie-Tooth disease dominant intermediate D

Also known as: CMTDID, Charcot Marie Tooth disease dominant intermediate 3, Charcot-Marie-Tooth disease caused by mutation in MPZ, Charcot-Marie-Tooth disease dominant intermediate type D, Charcot-Marie-Tooth disease, dominant Intermediate type D, Charcot-Marie-Tooth disease, dominant intermediate D, Charcot-Marie-Tooth neuropathy dominant intermediate D, Charcot-Marie-Tooth neuropathy, dominant Intermediate D, DI-CMTD, Di-Cmtd, MPZ Charcot-Marie-Tooth disease, MPZ-related intermediate Charcot-Marie-Tooth neuropathy, autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Charcot-Marie-Tooth disease dominant intermediate E

Also known as: CMTDIE, Charcot-Marie-Tooth disease - nephropathy, Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate type E, Charcot-Marie-Tooth disease, dominant Intermediate type E, Charcot-Marie-Tooth disease, dominant intermediate E, Charcot-Marie-Tooth disease-nephropathy syndrome, Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis, autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Charcot-Marie-Tooth disease dominant intermediate F

Also known as: CMTDIF, Charcot-Marie-Tooth disease dominant intermediate type F, Charcot-Marie-Tooth disease, dominant Intermediate type F, Charcot-Marie-Tooth disease, dominant intermediate F, DI-CMTF, GNB4-related intermediate Charcot-Marie-Tooth neuropathy, autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Charcot-Marie-Tooth disease recessive intermediate A

Also known as: CMTRIA, Charcot-Marie-Tooth disease caused by mutation in GDAP1, Charcot-Marie-Tooth disease recessive intermediate type A, Charcot-Marie-Tooth disease, recessive Intermediate type a, Charcot-Marie-Tooth disease, recessive intermediate A, Charcot-Marie-Tooth disease, recessive intermediate, A, Charcot-Marie-Tooth neuropathy recessive intermediate A, Charcot-Marie-Tooth neuropathy, recessive Intermediate a, GDAP1 Charcot-Marie-Tooth disease, RI-CMT type A, RI-CMTA, Ri-Cmta, autosomal recessive intermediate Charcot-Marie-Tooth disease type A

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