I.2
Item
Diagnosed with clinical features suggestive of congenital cranial nerve dysfunction
boolean
C0205210 (UMLS CUI [1,1])
C2348519 (UMLS CUI [1,2])
C0332299 (UMLS CUI [1,3])
C1744681 (UMLS CUI [1,4])
C3553482 (UMLS CUI [1,5])
I.3
Item
Consent and Enrollment
boolean
C0021430 (UMLS CUI [1,1])
C2348568 (UMLS CUI [2,1])
I.5
Item
Donated biological sample for DNA extraction of sufficient quality and quantity
boolean
C2347026 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
C0205410 (UMLS CUI [1,3])
C0332306 (UMLS CUI [1,4])
C2347026 (UMLS CUI [2,1])
C0012854 (UMLS CUI [2,2])
C0205410 (UMLS CUI [2,3])
C1265611 (UMLS CUI [2,4])
I.4
Item
Provided appropriate clinical data for phenotypic evaluation
boolean
C1516606 (UMLS CUI [1,1])
C1548787 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C0220825 (UMLS CUI [1,4])
I.1
Item
Suspected acquired conditions
boolean
C0332147 (UMLS CUI [1,1])
C0439661 (UMLS CUI [1,2])
C0348080 (UMLS CUI [1,3])