Elig.phs000492.v3.p2.1
Item
Inclusion Criteria: Persons having a brain malformation (i.e.: microcephaly, heterotopias, polymicrogyria, or lissencephaly), familial intellectual disability, and/or epilepsy. Unaffected family members of enrolled probands may also be included. Males and females of any age, race or ethnicity are included.
boolean
C1512693 (UMLS CUI [1,1])
C0266449 (UMLS CUI [1,2])
C0851352 (UMLS CUI [1,3])
C3714756 (UMLS CUI [1,4])
C0014544 (UMLS CUI [1,5])
C1512693 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0522477 (UMLS CUI [2,3])
C1512693 (UMLS CUI [3,1])
C3641650 (UMLS CUI [3,2])
C0079399 (UMLS CUI [3,3])
C0001779 (UMLS CUI [3,4])
C0034510 (UMLS CUI [3,5])
C0015031 (UMLS CUI [3,6])
Elig.phs000492.v3.p2.2
Item
Exclusion Criteria: Persons with a probable non-genetic cause already identified for their brain malformation or intellectual disability, and those without a brain malformation or intellectual disability.
boolean
C0680251 (UMLS CUI [1,1])
C0332148 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
C0019247 (UMLS CUI [1,4])
C1314792 (UMLS CUI [1,5])
C0680251 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C0266449 (UMLS CUI [2,3])
C3714756 (UMLS CUI [2,4])