Alpha-crystallinopathy
|
(Orphanet:98910)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
|
(Orphanet:99946)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
|
(Orphanet:99947)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2B
|
(Orphanet:99936)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2C
|
(Orphanet:99937)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2E
|
(Orphanet:99939)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2F
|
(Orphanet:99940)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2J
|
(Orphanet:99943)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2N
|
(Orphanet:228174)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2P
|
(Orphanet:300319)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
|
(Orphanet:100043)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
|
(Orphanet:93114)
|
Autosomal recessive axonal neuropathy with neuromyotonia
|
(Orphanet:324442)
|
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
|
(Orphanet:217055)
|
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
|
(Orphanet:254334)
|
Autosomal recessive limb-girdle muscular dystrophy type 2G
|
(Orphanet:34514)
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
|
(OMIM:616155)
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
|
(OMIM:616280)
|
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
|
(OMIM:616039)
|
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED
|
(OMIM:302900)
|
Charcot-Marie-Tooth disease type 1A
|
(Orphanet:101081)
|
Charcot-Marie-Tooth disease type 1B
|
(Orphanet:101082)
|
Charcot-Marie-Tooth disease type 1D
|
(Orphanet:101084)
|
Charcot-Marie-Tooth disease type 1E
|
(Orphanet:90658)
|
Charcot-Marie-Tooth disease type 2B1
|
(Orphanet:98856)
|
Charcot-Marie-Tooth disease type 2H
|
(Orphanet:101102)
|
Charcot-Marie-Tooth disease type 4B2
|
(Orphanet:99956)
|
Chédiak-Higashi syndrome
|
(Orphanet:167)
|
Dejerine-Sottas syndrome
|
(Orphanet:64748)
|
Distal hereditary motor neuropathy, Jerash type
|
(Orphanet:139552)
|
Distal myopathy with early respiratory muscle involvement
|
(Orphanet:34521)
|
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2
|
(OMIM:158901)
|
Hereditary motor and sensory neuropathy type 5
|
(Orphanet:64751)
|
Hereditary proximal myopathy with early respiratory failure
|
(Orphanet:178464)
|
MYOPATHY, DISTAL, INFANTILE-ONSET
|
(OMIM:160300)
|
MYOPATHY, TUBULAR AGGREGATE, 2
|
(OMIM:615883)
|
Oculopharyngodistal myopathy
|
(Orphanet:98897)
|
PELGER-HUET ANOMALY
|
(OMIM:169400)
|
PERONEUS TERTIUS MUSCLE, ABSENCE OF
|
(OMIM:261400)
|
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
|
(OMIM:300695)
|
Scapuloperoneal amyotrophy
|
(Orphanet:85146)
|
VACUOLAR NEUROMYOPATHY
|
(OMIM:601846)
|
X-linked Charcot-Marie-Tooth disease type 2
|
(Orphanet:101076)
|
X-linked Charcot-Marie-Tooth disease type 3
|
(Orphanet:101077)
|
Young adult-onset distal hereditary motor neuropathy
|
(Orphanet:314485)
|