Probands in these studies will be children who present to Washington University School of Medicine with unique and previously uncharacterized pathological findings with likely Mendelian inheritance. Inclusion criteria consist of parental written informed consent and the ability to provide genomic DNA from the proband(s) and parents, and potentially a healthy sibling who has also provided written informed consent. Exclusion criteria include a lack of written informed consent or the inability to provide genomic DNA. Written informed consent would also permit relevant ancillary clinical studies (e.g. MRI scan, cardiac echocardiography) to be performed either during the proband's clinical course or as part of the characterization of other pedigree members. However, refusal to undergo ancillary testing would not exclude the pedigree from genomic characterization.
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Probands in these studies will be children who present to Washington University School of Medicine with unique and previously uncharacterized pathological findings with likely Mendelian inheritance. Inclusion criteria consist of parental written informed consent and the ability to provide genomic DNA from the proband(s) and parents, and potentially a healthy sibling who has also provided written informed consent. Exclusion criteria include a lack of written informed consent or the inability to provide genomic DNA. Written informed consent would also permit relevant ancillary clinical studies (e.g. MRI scan, cardiac echocardiography) to be performed either during the proband's clinical course or as part of the characterization of other pedigree members. However, refusal to undergo ancillary testing would not exclude the pedigree from genomic characterization.
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C1512693 (UMLS CUI [1,1])
C0811741 (UMLS CUI [1,2])
C0600634 (UMLS CUI [1,3])
C1999230 (UMLS CUI [1,4])
C3272453 (UMLS CUI [1,5])
C0030551 (UMLS CUI [1,6])
C0037047 (UMLS CUI [1,7])
C2828389 (UMLS CUI [2,1])
C0332268 (UMLS CUI [2,2])
C0021430 (UMLS CUI [2,3])
C1298908 (UMLS CUI [2,4])
C1999230 (UMLS CUI [2,5])
C3272453 (UMLS CUI [2,6])
C0030761 (UMLS CUI [2,7])
C0887950 (UMLS CUI [2,8])
C1880022 (UMLS CUI [2,9])