Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000848.v1.p1.1
Item
Patient samples were chosen for inclusion in the project based on the following criteria:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000848.v1.p1.2
Item
Families who had similar syndromic features were studied.
boolean
C0015576 (UMLS CUI [1,1])
C0039082 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C2603343 (UMLS CUI [1,4])
Elig.phs000848.v1.p1.3
Item
Patients, parents and other family members are available.
boolean
C0470187 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
Elig.phs000848.v1.p1.4
Item
DNA was available for use in exome sequencing.
boolean
C0470187 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
C3640076 (UMLS CUI [1,3])
Elig.phs000848.v1.p1.5
Item
Informed consent documentation.
boolean
C0021430 (UMLS CUI [1,1])