Next Generation Mendelian Genetics: Kabuki Syndrome
Disease Events (14)
- AFFECTION_STATUS - Case control status of the subject for Kabuki Syndrome (phv00112145.v1.p1)
- Aortic Coarctation - Presence or absence of aortic coarctation (phv00112153.v1.p1)
- ASD - Presence or absence of Atrial Septal Defect (ASD) (phv00112151.v1.p1)
- Bicuspid valves - Presence or absence of bicuspid valves (phv00112154.v1.p1)
- Cleft_palate - Presence or absence of cleft palate (phv00112161.v1.p1)
- Developmental_delay - Presence or absence of developmental delay (phv00112164.v1.p1)
- Dysrhythmia - Presence or absence of cardiac dysrhythimia (phv00112155.v1.p1)
- Hearing_loss - Presence or absence of hearing loss (phv00112159.v1.p1)
- High_arched_palate - Presence or absence of high arching palate (phv00112162.v1.p1)
- Hypotonia - Presence or absence of hypotonia (phv00112163.v1.p1)
- Kidney_abnormality - Presence or absence of kidney structural abnormality (phv00112157.v1.p1)
- Kidney_dysfunction - Presence or absence of kidney functional abnormality (phv00112158.v1.p1)
- Preauricular_pits_tags - Presence or absence of preauricular pits or tags (phv00112160.v1.p1)
- Spleen_liver_abnormality - Presence or absence of spleen or liver abnormality (phv00112156.v1.p1)
Other (14)
- ANALYTE_TYPE - Analyte Type (phv00334402.v1.p1)
- CONSENT - Consent group as determined by DAC (phv00112142.v1.p1)
- IS_TUMOR - Tumor status (phv00334403.v1.p1)
- SAMP_SOURCE - Source repository where samples originate (phv00112148.v1.p1)
- SAMPID - Sample ID (phv00112147.v1.p1)
- SAMPID - Sample ID (phv00334401.v1.p1)
- SAMPLE_USE - Sample Use (phv00334400.v1.p1)
- SOURCE_SAMPID - Sample ID used in the Source Repository (phv00112149.v1.p1)
- SOURCE_SUBJID - Subject ID used in the Source Repository (phv00112144.v1.p1)
- SUBJ_SOURCE - Source repository where subjects originate (phv00112143.v1.p1)
- SUBJID - Deidentified subject ID (phv00112150.v1.p1)
- SUBJID - Subject ID (phv00112141.v1.p1)
- SUBJID - Subject ID (phv00112146.v1.p1)
- VSD - Presence or absence of Ventricular Septal Defect (VSD) (phv00112152.v1.p1)