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Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

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Title: Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Authors: Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Vogt MR; Department of Radiotherapy & Radiation Oncology, Hubertus Wald Tumor Center - University Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Schlieben LD; Institute of Human Genetics, School of Medicine and Health, Technical University Munich, 81675 Munich, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Shoukier M; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, 80639 Munich, Germany., Bagowski C; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, 80639 Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany., Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, 53113 Bonn, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, 53113 Bonn, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany., Lainka E; University Children's Hospital Essen, Pediatric Gastroenterology, Rheumatology, Transplant Medicine, 45147 Essen, Germany., Stalke A; Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany., von Hardenberg S; Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany., Auber B; Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany., Pfister ED; Department for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, 30625 Hannover, Germany., Reversade B; Laboratory of Human Genetics & Therapeutics, King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia., Sabbagh A; Universite Saint Joseph de Beyrouth, Faculte de Medecine Damascus, Beirut 1107-2180, Lebanon., Bertoli-Avella AM; CENTOGENE GmbH, 18055 Rostock, Germany., Alawbathani S; CENTOGENE GmbH, 18055 Rostock, Germany., Palmer EE; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, NSW 2031, Australia., Chauhan M; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, Sydney, NSW 2031, Australia., Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW 2031, Australia; Centre for Population Genomics Murdoch Children's Research Institute, Melbourne, VIC 3051, Australia., Kim Y; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, NSW 2031, Australia., Papingi D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bartholdi D; INSELSPITAL, University Hospital Bern Department of Human Genetics, 3010 Bern, Switzerland., Braun D; INSELSPITAL, University Hospital Bern Department of Human Genetics, 3010 Bern, Switzerland., Maier O; Department of Child Neurology, Developmental Medicine and Rehabilitation, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland., Dinwiddie A; CeGaT, 72076 Tübingen, Germany., Steichen-Gersdorf E; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria; Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria., Tiulpakov A; Department of Endocrine Genetics, Research Centre for Medical Genetics, Moscow 115522, Russian Federation., Zernov N; Biotech Campus LLC, Moscow 117997, Russian Federation., Arismendi MI; Genetic Endocrinology Unit (LIM25), Endocrinology Division, Faculdade de Medicinada Universidade de São Paulo (HC-FMUSP), São Paulo 01246-903, Brazil., Jorge AAL; Genetic Endocrinology Unit (LIM25), Endocrinology Division, Faculdade de Medicinada Universidade de São Paulo (HC-FMUSP), São Paulo 01246-903, Brazil., Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia., Dreyer L; Genetic Health Western Australia, Perth, WA 6008, Australia., Loughman L; Genetic Health Western Australia, Perth, WA 6008, Australia., Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University Munich, 81675 Munich, Germany; Institute of Neurogenomics, Computational Health, Helmholtz Zentrum München, 85764 Munich, Germany; German Center for Child and Adolescent Health (DZKJ), Partner Site Munich, 80337 Munich, Germany., Borgmann K; Department of Radiotherapy & Radiation Oncology, Hubertus Wald Tumor Center - University Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), Partner Site Hamburg, 20251 Hamburg, Germany. Electronic address: kkutsche@uke.de.
Corporate Authors: Australian Undiagnosed Diseases Network (UDN-Aus); Australian Undiagnosed Diseases Network (UDN-Aus), Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Source: American journal of human genetics [Am J Hum Genet] 2026 May 07; Vol. 113 (5), pp. 1067-1089. Date of Electronic Publication: 2026 Apr 09.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
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Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, 80639 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Bagowski+C%22">Bagowski C</searchLink>; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, 80639 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Distelmaier+F%22">Distelmaier F</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Averdunk+L%22">Averdunk L</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Knaus+A%22">Knaus A</searchLink>; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, 53113 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Krawitz+P%22">Krawitz P</searchLink>; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, 53113 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; 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