eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | west syndrome |
| Comorbidity | C0025362|mental retardation |
| Sentences | 1 |
| PubMedID- 20845763 | Loss-of-function mutations, such as nonsense or frameshifts mutation, of arx cause a group of brain malformations, such as hydranencephaly, lissencephaly, and agenesis of the corpus callosum, while expansion mutations of the polyalanine tracts of arx, supposed to be gain-of-function mutations, result in a non-malformation group, such as non-syndromic mental retardation, mental retardation with dystonia, west syndrome, and ohtahara syndrome. |
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