Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
Charcot-Marie-Tooth disease type 2A1

Also known as: CMT 2A, CMT2A, CMT2A1, Charcot Marie Tooth disease type 2A, Charcot-Marie-Tooth disease neuronal type 2A1, Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B, Charcot-Marie-Tooth disease type 2A, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1, Charcot-Marie-Tooth disease, axonal, type 2A, Charcot-Marie-Tooth disease, axonal, type 2A1, Charcot-Marie-Tooth disease, neuronal, type 2A, Charcot-Marie-Tooth disease, neuronal, type 2A1, Charcot-Marie-Tooth disease, type 2A1, Charcot-Marie-Tooth neuropathy type 2A1, Charcot-Marie-Tooth neuropathy, type 2A1, HMSN IIA, HMSN IIA1, HMSN IIa1, HMSN2A1, KIF1B Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1, autosomal dominant Charcot-Marie-Tooth disease type 2A1, hereditary motor and sensory neuropathy 2 A, hereditary motor and sensory neuropathy IIA1, hereditary motor and sensory neuropathy IIa1

Charcot-Marie-Tooth disease type 2A2

Also known as: CMT2A2, CMT2A2A, Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2, Charcot-Marie-Tooth disease type 2A2A, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A, Charcot-Marie-Tooth disease, axonal, type 2A2, Charcot-Marie-Tooth disease, axonal, type 2A2A, Charcot-Marie-Tooth disease, neuronal, type 2A2, Charcot-Marie-Tooth neuronal type 2A2, Charcot-Marie-Tooth neuropathy type 2A2, Charcot-Marie-Tooth neuropathy, type 2A2, HMSN IIA2, HMSN IIa2, HMSN2A2, MFN2 Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2A2, autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2, hereditary motor and sensory neuropathy IIA2, hereditary motor and sensory neuropathy IIa2

Charcot-Marie-Tooth disease type 2B

Also known as: CMT 2B, CMT2B, Charcot Marie Tooth disease type 2B, Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A, Charcot-Marie-Tooth disease, autosomal dominant, type 2B, Charcot-Marie-Tooth disease, axonal, type 2B, Charcot-Marie-Tooth disease, neuronal, type 2B, Charcot-Marie-Tooth disease, type 2B, Charcot-Marie-Tooth neuropathy type 2B, Charcot-Marie-Tooth neuropathy, type 2B, HMSN IIB, HMSN2B, RAB7A Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2B, hereditary motor and sensory neuropathy 2 B (HMSN 2 B), hereditary motor and sensory neuropathy 2B, hereditary motor and sensory nueropathy IIB, peripheral sensory neuropathy, autosomal dominant (PSN)

Charcot-Marie-Tooth disease type 2B1

Also known as: AR-CMT2B1, CMT 2B1, CMT2B1, Charcot Marie Tooth disease type 2B1, Charcot-Marie-Tooth disease neuronal type 2B1, Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA, Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1, Charcot-Marie-Tooth disease, axonal, type 2B1, Charcot-Marie-Tooth disease, neuronal, type 2B1, Charcot-Marie-Tooth disease, type 2B1, Charcot-Marie-Tooth neuropathy type 2B1, Charcot-Marie-Tooth neuropathy, type 2B1, LMNA Charcot-Marie-Tooth disease type 2, autosomal recessive Charcot-Marie-Tooth disease type 2B1, autosomal recessive axonal CMT4C1, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

Also known as: AR-CMT2B2, ARCMT2B, Arcmt2B, CMT 2B2, CMT2B2, Charcot Marie Tooth disease type 2B2, Charcot-Marie-Tooth disease neuronal type 2B2, Charcot-Marie-Tooth disease type 2 caused by mutation in MED25, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2, Charcot-Marie-Tooth disease, axonal, type 2B2, Charcot-Marie-Tooth disease, neuronal, type 2B2, Charcot-Marie-Tooth disease, type 2B2, Charcot-Marie-Tooth neuropathy type 2B2, Charcot-Marie-Tooth neuropathy, type 2B2, MED25 Charcot-Marie-Tooth disease type 2, autosomal recessive axonal CMT4C3, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease type 2B5

Also known as: AR-CMT2B5, Charcot-Marie-Tooth disease type 2B5, SEOAN due to NEFL deficiency, autosomal recessive Charcot-Marie-Tooth disease type 2B5, severe early-onset axonal neuropathy due to NEFL deficiency, severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

Charcot-Marie-Tooth disease type 2D

Also known as: CMT 2D, CMT2D, Charcot Marie Tooth disease type 2D, Charcot-Marie-Tooth disease neuronal type 2D, Charcot-Marie-Tooth disease type 2 caused by mutation in GARS, Charcot-Marie-Tooth disease, axonal, type 2D, Charcot-Marie-Tooth disease, neuronal, type 2D, Charcot-Marie-Tooth disease, type 2D, Charcot-Marie-Tooth neuropathy type 2D, Charcot-Marie-Tooth neuropathy, type 2D, GARS Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2D

Charcot-Marie-Tooth disease type 2E

Also known as: CMT 2E, CMT2E, Charcot Marie Tooth disease type 2E, Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL, Charcot-Marie-Tooth disease, axonal, type 2E, Charcot-Marie-Tooth disease, type 2E, Charcot-Marie-Tooth neuropathy type 2E, Charcot-Marie-Tooth neuropathy, type 2E, NEFL Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth disease type 2I

Also known as: CMT 2I, CMT2I, Charcot Marie Tooth disease type 2I, Charcot-Marie-Tooth disease, axonal, type 2I, Charcot-Marie-Tooth disease, type 2I, Charcot-Marie-Tooth neuropathy type 2I, Charcot-Marie-Tooth neuropathy, type 2I, autosomal dominant Charcot-Marie-Tooth disease type 2I

Charcot-Marie-Tooth disease type 2J

Also known as: CMT 2J, CMT2J, Charcot Marie Tooth disease type 2J, Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth disease, axonal, type 2J, Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth disease, type 2J, Charcot-Marie-Tooth neuropathy type 2J, Charcot-Marie-Tooth neuropathy, type 2J, autosomal dominant Charcot-Marie-Tooth disease type 2J

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