Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal recessive spinocerebellar ataxia 14

Also known as: Ataxie spinocérébelleuse à début infantile avec retard psychomoteur, SCAR14, SPARCA, SPARCA1, SPTBN2 autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia caused by mutation in SPTBN2, autosomal recessive cerebellar ataxia-cognitive defect syndrome, autosomal recessive spinocerebellar ataxia type 14, cerebellar ataxia, autosomal recessive, spectrin-associated, 1, infantile-onset spinocerebellar ataxia-psychomotor delay syndrome, spectrin-associated autosomal recessive cerebellar ataxia, spectrin-associated autosomal recessive cerebellar ataxia type 1, spinocerebellar ataxia, autosomal recessive 14, spinocerebellar ataxia, autosomal recessive type 14

autosomal recessive spinocerebellar ataxia 15

Also known as: RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome, RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, SCAR15, Salih ataxia, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency, autosomal recessive spinocerebellar ataxia type 15, spinocerebellar ataxia, autosomal recessive 15, spinocerebellar ataxia, autosomal recessive type 15

autosomal recessive spinocerebellar ataxia 16

Also known as: SCAR16, STUB1 autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia caused by mutation in STUB1, autosomal recessive cerebellar ataxia due to STUB1 deficiency, autosomal recessive spinocerebellar ataxia 16, autosomal recessive spinocerebellar ataxia type 16, spinocerebellar ataxia autosomal recessive type 16, spinocerebellar ataxia, autosomal recessive 16, spinocerebellar ataxia, autosomal recessive type 16

autosomal recessive spinocerebellar ataxia 17

Also known as: CWF19L1 autosomal recessive congenital cerebellar ataxia, SCAR17, autosomal recessive cerebellar ataxia due to CWF19L1 deficiency, autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1, autosomal recessive spinocerebellar ataxia type 17, spinocerebellar ataxia autosomal recessive type 17, spinocerebellar ataxia, autosomal recessive 17, spinocerebellar ataxia, autosomal recessive type 17

autosomal recessive spinocerebellar ataxia 18

Also known as: GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome, GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome, SCAR18, autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2, autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2, autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency, autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, autosomal recessive spinocerebellar ataxia type 18, spinocerebellar ataxia, autosomal recessive 18, spinocerebellar ataxia, autosomal recessive type 18

autosomal recessive spinocerebellar ataxia 2

Also known as: CPD 3, CPD3, CPDIII, PMPCA autosomal recessive congenital cerebellar ataxia, SCAR2, autosomal recessive cerebelloparenchymal disorder type 3, autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA, autosomal recessive spinocerebellar ataxia type 2, cerebellar granular cell hypoplasia and intellectual disability, congenital, cerebellar granular cell hypoplasia and mental retardation, congenital, cerebellar hypoplasia, nonprogressive Norman type, cerebelloparenchymal disorder 3, spinocerebellar ataxia, autosomal recessive 2

autosomal recessive spinocerebellar ataxia 20

Also known as: SCAR20, SNX14 autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia caused by mutation in SNX14, autosomal recessive spinocerebellar ataxia type 20, intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome, spinocerebellar ataxia, autosomal recessive 20, spinocerebellar ataxia, autosomal recessive type 20

autosomal recessive spinocerebellar ataxia 7

Also known as: SCAR7, autosomal recessive spinocerebellar ataxia type 7, childhood onset autosomal recessive slowly progressive spinocerebellar ataxia, childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia, spinocerebellar ataxia autosomal recessive 7, spinocerebellar ataxia, autosomal recessive 7, spinocerebellar ataxia, autosomal recessive type 7

autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Also known as: PAM16 spondylodysplastic dysplasia, SMDMDM, autosomal recessive spondylometaphyseal dysplasia, Mégarbané type, chondrodysplasia, Megarbane-Dagher-Melki type, spondylodysplastic dysplasia caused by mutation in PAM16, spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type, spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type

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