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Paper Details

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Eur J Hum Genet
9
2022
16q24, ANKRD11, Ankyrin Repeat Domain 11, EEG abnormalities, Human, Human Disease Gene, KBG syndrome, Neurologic abnormalities, Participants, anteverted nares, attention deficit hyperactivity disorder, autism spectrum disorder, craniofacial, developmental delays, hypertelorism, intellectual, and neurobehavioral anomalies, macrodontia, participants, patients, seizures, short stature, synophrys, truncating variants
Author NameAffiliation
Saskia Biskup
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universitat Bonn
Gholson J LyonNYS Institute for Basic Research in Developmental Disabilities
Gholson J LyonGeorge A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities
Gholson J LyonThe City University of New York
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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