eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | intellectual disability |
| Comorbidity | C0025958|microcephaly |
| Sentences | 4 |
| PubMedID- 25934493 | It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. |
| PubMedID- 23311583 | Background: cockayne syndrome cs (type a - csa; or cs type i omim #216400) (type b - csb; or cs type ii omim #133540) is a rare autosomal recessive neurological disease caused by defects in dna repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies. |
| PubMedID- 24204302 | In a large consanguineous family of moroccan origin, we identified a new syndrome of severe insulinopenic young onset diabetes and microcephaly with intellectual disability. |
| PubMedID- 23099646 | The dyrk1a gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. |
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