Rare Disease Library

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Mild peroxisomal disorder due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Mild peroxisomal disorder due to PEX2 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

Autosomal recessive cerebellar ataxia

ARCA

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

SCAR17 · Spinocerebellar ataxia autosomal recessive type 17

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

SCAR16 · Spinocerebellar ataxia autosomal recessive type 16

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Salih ataxia · Autosomal recessive spinocerebellar ataxia type 15

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

SCAR23 · Spinocerebellar ataxia autosomal recessive type 23

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive spinocerebellar ataxia type 12 · SCAR12

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

Autosomal recessive cerebral atrophy

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive combined immunodeficiency due to IL6R deficiency

AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency

Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency

Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency · AR CID due to partial IL6ST deficiency

Autosomal recessive congenital cerebellar ataxia

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency · SCAR18

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency · Autosomal recessive spinocerebellar ataxia type 13

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal recessive limb-girdle muscular dystrophy type 2R

Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency · LGMD2R

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive MSMD due to partial IFNgammaR1 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal recessive MSMD due to partial IFNgammaR2 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3