Rare Disease Library

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Machado-Joseph disease type 1

SCA3, Joseph type · Spinocerebellar ataxia type 3, Joseph type

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

Machado-Joseph disease type 3

SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type

Non-specific autoimmune cerebellar ataxia without characteristic antibodies

Non-specific autoimmune CA without characteristic antibodies · Primary Autoimmune Cerebellar Ataxia

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

Postinfectious cerebellitis

PIC · Para-infectious cerebellitis

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

Spinocerebellar ataxia type 14

SCA14

Spinocerebellar ataxia type 20

SCA20

Spinocerebellar ataxia type 22

SCA22

Spinocerebellar ataxia type 23

SCA23

Spinocerebellar ataxia type 25

SCA25

Spinocerebellar ataxia type 26

SCA26

Spinocerebellar ataxia type 27A

SCA27A

Spinocerebellar ataxia type 27B

Spinocerebellar ataxia type 28

SCA28

Spinocerebellar ataxia type 29

Congenital nonprogressive spinocerebellar ataxia · SCA29

Spinocerebellar ataxia type 30

SCA30

Spinocerebellar ataxia type 31

SCA31

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

Spinocerebellar ataxia type 34

Erythrokeratodermia with ataxia · SCA34

Spinocerebellar ataxia type 35

SCA35

Spinocerebellar ataxia type 36

Asidan · SCA36

Spinocerebellar ataxia type 37

SCA37 · Spinocerebellar ataxia with altered vertical eye movements

Spinocerebellar ataxia type 38

SCA38

Spinocerebellar ataxia type 4

SCA4

Spinocerebellar ataxia type 40

SCA40

Spinocerebellar ataxia type 41

SCA41

Spinocerebellar ataxia type 42

SCA42

Spinocerebellar ataxia type 43

SCA43

Spinocerebellar ataxia type 44

Spinocerebellar ataxia type 45

SCA45

Spinocerebellar ataxia type 46

SCA46

Spinocerebellar ataxia type 48

Spinocerebellar ataxia type 49