eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | intellectual disability |
| Comorbidity | C0007758|cerebellar ataxia |
| Sentences | 2 |
| PubMedID- 26189493 | The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity. |
| PubMedID- 26157035 | A homozygous mutation of vwa3b causes cerebellar ataxia with intellectual disability. |
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