PedAM
Pediatric Disease Annotations & Medicines
| Disease | intellectual disability |
| Phenotype | C0023520|leukodystrophy |
| Sentences | 1 |
| 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. |
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