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Paper Details

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
0
2023
Human, Infants, KDM6A, KMT2D, KS, Kabuki syndrome, ear anomalies, hypoplastic nails, infant, infants, micrognathia, non-immune hydrops, palatal defects, rare diseases, redundant nuchal skin
Author NameAffiliation
Anne SlavotinekUniversity of California San Francisco
Anne SlavotinekCincinnati Children's Hospital Medical Center, University of Cincinnati
Anne SlavotinekUniversity of California San Francisco
Anne SlavotinekCincinnati Children's Hospital Medical Center, University of Cincinnati
Stephen F KingsmoreRady Children's Institute for Genomic Medicine
David Dimmock
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2