Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal recessive spastic paraplegia type 76

Also known as: CAPN1 autosomal recessive complex spastic paraplegia, SPG76, autosomal recessive complex spastic paraplegia caused by mutation in CAPN1, autosomal recessive spastic paraplegia 76, hereditary spastic paraplegia 76, hereditary spastic paraplegia type 76, spastic paraplegia 76, autosomal recessive

autosomal recessive spastic paraplegia type 78

Also known as: ATP13A2 hereditary spastic paraplegia, SPG78, hereditary spastic paraplegia caused by mutation in ATP13A2, spastic paraplegia 78, autosomal recessive, spastic paraplegia 78, autosomal recessive; SPG78

autosomal recessive spinocerebellar ataxia 10

Also known as: ANO10 autosomal recessive cerebellar ataxia, SCAR10, adult-onset autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia caused by mutation in ANO10, autosomal recessive spinocerebellar ataxia type 10, spinocerebellar ataxia, autosomal recessive 10, spinocerebellar ataxia, autosomal recessive type 10

autosomal recessive spinocerebellar ataxia 11

Also known as: SCAR11, SYT14 autosomal recessive syndromic cerebellar ataxia, autosomal recessive cerebellar ataxia-psychomotor retardation syndrome, autosomal recessive spinocerebellar ataxia 11, autosomal recessive spinocerebellar ataxia type 11, autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14, spinocerebellar ataxia, autosomal recessive 11, spinocerebellar ataxia, autosomal recessive type 11

autosomal recessive spinocerebellar ataxia 12

Also known as: SCAR12, WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome, WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX, autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX, autosomal recessive spinocerebellar ataxia 12, autosomal recessive spinocerebellar ataxia type 12, spinocerebellar ataxia with intellectual disability and epilepsy, spinocerebellar ataxia with mental retardation and epilepsy, spinocerebellar ataxia, autosomal recessive 12, spinocerebellar ataxia, autosomal recessive type 12

autosomal recessive spinocerebellar ataxia 13

Also known as: GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome, GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome, SCAR13, autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1, autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1, 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 13, autosomal recessive spinocerebellar ataxia type 13, spinocerebellar ataxia, autosomal recessive 13, spinocerebellar ataxia, autosomal recessive type 13

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