The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious and falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
Item
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious and falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
boolean
C1512693 (UMLS CUI [1,1])
C0478157 (UMLS CUI [1,2])
C1387037 (UMLS CUI [1,3])
C2598510 (UMLS CUI [1,4])
C5142998 (UMLS CUI [1,5])
C0086282 (UMLS CUI [1,6])
C0680251 (UMLS CUI [2,1])
C0332148 (UMLS CUI [2,2])
C2984077 (UMLS CUI [2,3])
C0314603 (UMLS CUI [2,4])
C0524851 (UMLS CUI [2,5])
C0314603 (UMLS CUI [2,6])
C0085978 (UMLS CUI [2,7])
C0205309 (UMLS CUI [2,8])