GMKF: Kids First Pediatric Research Program on Congenital Cranial Dysinnervation Disorders and Related Birth Defects

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Demographics (2)

SEX - Sex (phv00393313.v1.p1)
SEX - Gender of participant (phv00393338.v1.p1)

Disease Events (3)

Cardiac anomaly_present - Are cardiac structural or functional symptoms present? (phv00393334.v1.p1)
GI dysfunction_present - Are GI structural or functional symptoms present? (phv00393335.v1.p1)
Renal-urogenital anomaly_present - Are renal-urogenital structural or functional symptoms present? (phv00393336.v1.p1)

General Health (5)

Horizontal abnormality_present - Is there a horizontal eye movement limitation? (phv00393322.v1.p1)
Muscle weakness-hypotonia_present - Is there non-facial weakness or hypotonia noted? (phv00393331.v1.p1)
Ptosis_present - Is there ptosis or eye-lid drooping? (phv00393321.v1.p1)
Scoliosis other core skeletal anomaly_present - Are scoliosis or other core skeletal anomalies present? (phv00393332.v1.p1)
Vertical abnormality_present - Is there a vertical eye movement limitation? (phv00393320.v1.p1)

Mental Health (1)

Cognitive-social-behavioral disability_present - Are symptoms present indicating cognitive, social, or behavioarl dysfunction? (phv00393330.v1.p1)

Race and Ethnicity (1)

Race - Race of participant (phv00393339.v1.p1)

Other (29)

AFFECTION_STATUS - Case - control status of the subject (phv00393308.v1.p1)
ANALYTE_TYPE - Analyte Type (phv00393344.v1.p1)
BODY_SITE - Body site where sample was collected (phv00393343.v1.p1)
Brain Imaging abnormality_ present - Are abnormalities present on brain imaging? (phv00393329.v1.p1)
CONSENT - Consent group as determined by DAC (phv00393307.v1.p1)
Craniofacial malformation dysmorphism_present - Is there a malformation or dysmorphism affecting the head or face? (phv00393326.v1.p1)
Diagnosis - CCDD diagnosis type for pedigree (phv00393341.v1.p1)
Ethnicity - Ethnicity of participant (phv00393340.v1.p1)
Facial weakness_present - Is there facial weakness? (phv00393323.v1.p1)
FAMILY_ID - Family ID (phv00393309.v1.p1)
FATHER - Father's Subject ID (phv00393312.v1.p1)
Hearing impairment_present - Is there hearing impairment? (phv00393324.v1.p1)
HISTOLOGICAL_TYPE - Cell or tissue type or subtype of sample (phv00393346.v1.p1)
IS_TUMOR - Tumor status (phv00393345.v1.p1)
Limb anomaly_present - Are there limb defects? (phv00393333.v1.p1)
Lower cranial nerve dysfunction_present - Is there evidence of dysfunction of CN IX, X, XI, XII (phv00393325.v1.p1)
Malformation dysmorphism_Other_present - Is there a malformation or dysmorphism affecting anything other than head or face? (phv00393328.v1.p1)
MOTHER - Mother's Subject ID (phv00393311.v1.p1)
Palatal anomaly_present - Is there cleft lip, palate, high arched palate or bifid uvula? (phv00393327.v1.p1)
SAMPLE_ID - Sample ID (phv00393315.v1.p1)
SAMPLE_ID - De-identified Sample ID (phv00393342.v1.p1)
SAMPLE_SOURCE - Source repository where samples originate (phv00393316.v1.p1)
SAMPLE_USE - Sample Use (phv00393318.v1.p1)
SOURCE_SAMPLE_ID - Sample ID used in the Source Repository (phv00393317.v1.p1)
SUBJECT_ID - De-identified Subject ID (phv00393319.v1.p1)
SUBJECT_ID - Unique Subject ID (phv00393310.v1.p1)
SUBJECT_ID - Subject ID (phv00393314.v1.p1)
SUBJECT_ID - De-identified Subject ID (phv00393337.v1.p1)
SUBJECT_ID - Subject ID (phv00393306.v1.p1)