eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cerebellar ataxia |
| Comorbidity | C0025362|mental retardation |
| Sentences | 6 |
| PubMedID- 25173816 | Dysequilibrium syndrome (des, omim 224050) is a genetically heterogeneous condition that combines autosomal recessive non-progressive cerebellar ataxia with mental retardation. |
| PubMedID- 24575028 | It usually manifests clinically as progressive or nonprogressive cerebellar ataxia with or without mental retardation. |
| PubMedID- 20531441 | Camos (cerebellar ataxia with mental retardation, optic atrophy and skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. |
| PubMedID- 24369382 | The tumour suppressor gene wwox is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. |
| PubMedID- 22973972 | Background: dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. |
| PubMedID- 25070513 | Tmem240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. |
Page: 1