Louanne Hudgins, MD, is Chief of the Division of Medical Genetics and Professor of Pediatrics at Stanford University and Lucille Packard Children's Hospital. Helga V. Toriello, PhD, is Professor of Pediatrics and Human Development at Michigan State University and Director of Clinical Genetics at Spectrum Health.Gregory M. Enns, MD, is Associate Professor of Pediatrics in the Division of Medical Genetics at Stanford University and Lucille Packard Children's Hospital.H. Eugene Hoyme, MD, is Professor of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Chief Academic Officer and President of Research at Sanford Health.

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• 1: Genetic Testing ; Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan ; 2: Short Stature ; Melanie A. Manning ; 3: Obesity ; David J. Aughton ; 4: Overgrowth Syndromes ; Margaret P. Adam ; 5: Asymmetry ; Omar A. Abdul- Rahman ; 6: Microcephaly ; Cynthia J. Curry ; 7: Macrocephaly ; Helga V. Toriello and Margaret P. Adam ; 8: Alterations in cranial shape ; Michael J. Lyons ; 9: Brain malformations ; Anne Slavotinek ; 10: Intellectual disability ; Agatino Battaglia ; 11: Autism ; Marwan Shinawi ; 12: Hypotonia ; Elliott H. Scherr and Gregory M. Enns ; 13: Weakness ; Amy Kao and Robert D. Steiner ; 14: Ataxia ; Ching H. Wang and Gregory M. Enns ; 15: Seizures ; Randall A. Heidenreich ; 16: Acidosis ; Tina M. Cowan and Gregory M. Enns ; 17: Hypoglycemia ; Divya Vats and Seymour Packman ; 18: Hyperammonemia ; Gregory M. Enns and Tina M. Cowan ; 19: Hepatosplenomegaly ; Renata Gallagher ; 20: Hearing Loss ; Eloise Prijoles ; 21: Ear malformations ; Chad Haldeman-Englert and Helga V. Toriello ; 22: Eye malformations ; Graeme Black and Rachel Gillespie ; 23: Facial Clefting ; Marilyn C. Jones ; 24: Cardiac malformations ; Thomas Cushing and Joseph T.C. Shieh ; 25: Renal malformations ; Joseph T.C. Shieh ; 26: Limb malformations ; Leslie G. Biesecker and David B. Everman ; 27: Congenital contractures ; Judith G. Hall ; 28: Disorders of Sexual Development ; Christopher Cunniff ; 29: Skin pigmentations ; Anna L. Bruckner ; 30: Skin abnormalities ; Mary Beth Palko Dinulos ; 31: Spontaneous Abortion and Intrauterine Fetal Death ; Andrea Kwan and H. Eugene Hoyme

Louanne Hudgins, MD, is Chief of the Division of Medical Genetics and Professor of Pediatrics at Stanford University and Lucille Packard Children's Hospital. Helga V. Toriello, PhD, is Professor of Pediatrics and Human Development at Michigan State University and Director of Clinical Genetics at Spectrum Health.Gregory M. Enns, MD, is Associate Professor of Pediatrics in the Division of Medical Genetics at Stanford University and Lucille Packard Children's Hospital.H. Eugene Hoyme, MD, is Professor of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Chief Academic Officer and President of Research at Sanford Health.

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• 1: Genetic Testing ; Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan ; 2: Short Stature ; Melanie A. Manning ; 3: Obesity ; David J. Aughton ; 4: Overgrowth Syndromes ; Margaret P. Adam ; 5: Asymmetry ; Omar A. Abdul- Rahman ; 6: Microcephaly ; Cynthia J. Curry ; 7: Macrocephaly ; Helga V. Toriello and Margaret P. Adam ; 8: Alterations in cranial shape ; Michael J. Lyons ; 9: Brain malformations ; Anne Slavotinek ; 10: Intellectual disability ; Agatino Battaglia ; 11: Autism ; Marwan Shinawi ; 12: Hypotonia ; Elliott H. Scherr and Gregory M. Enns ; 13: Weakness ; Amy Kao and Robert D. Steiner ; 14: Ataxia ; Ching H. Wang and Gregory M. Enns ; 15: Seizures ; Randall A. Heidenreich ; 16: Acidosis ; Tina M. Cowan and Gregory M. Enns ; 17: Hypoglycemia ; Divya Vats and Seymour Packman ; 18: Hyperammonemia ; Gregory M. Enns and Tina M. Cowan ; 19: Hepatosplenomegaly ; Renata Gallagher ; 20: Hearing Loss ; Eloise Prijoles ; 21: Ear malformations ; Chad Haldeman-Englert and Helga V. Toriello ; 22: Eye malformations ; Graeme Black and Rachel Gillespie ; 23: Facial Clefting ; Marilyn C. Jones ; 24: Cardiac malformations ; Thomas Cushing and Joseph T.C. Shieh ; 25: Renal malformations ; Joseph T.C. Shieh ; 26: Limb malformations ; Leslie G. Biesecker and David B. Everman ; 27: Congenital contractures ; Judith G. Hall ; 28: Disorders of Sexual Development ; Christopher Cunniff ; 29: Skin pigmentations ; Anna L. Bruckner ; 30: Skin abnormalities ; Mary Beth Palko Dinulos ; 31: Spontaneous Abortion and Intrauterine Fetal Death ; Andrea Kwan and H. Eugene Hoyme

Louanne Hudgins, MD, is Chief of the Division of Medical Genetics and Professor of Pediatrics at Stanford University and Lucille Packard Children's Hospital. Helga V. Toriello, PhD, is Professor of Pediatrics and Human Development at Michigan State University and Director of Clinical Genetics at Spectrum Health.Gregory M. Enns, MD, is Associate Professor of Pediatrics in the Division of Medical Genetics at Stanford University and Lucille Packard Children's Hospital.H. Eugene Hoyme, MD, is Professor of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Chief Academic Officer and President of Research at Sanford Health.

Select Guide Rating

• 1: Genetic Testing ; Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan ; 2: Short Stature ; Melanie A. Manning ; 3: Obesity ; David J. Aughton ; 4: Overgrowth Syndromes ; Margaret P. Adam ; 5: Asymmetry ; Omar A. Abdul- Rahman ; 6: Microcephaly ; Cynthia J. Curry ; 7: Macrocephaly ; Helga V. Toriello and Margaret P. Adam ; 8: Alterations in cranial shape ; Michael J. Lyons ; 9: Brain malformations ; Anne Slavotinek ; 10: Intellectual disability ; Agatino Battaglia ; 11: Autism ; Marwan Shinawi ; 12: Hypotonia ; Elliott H. Scherr and Gregory M. Enns ; 13: Weakness ; Amy Kao and Robert D. Steiner ; 14: Ataxia ; Ching H. Wang and Gregory M. Enns ; 15: Seizures ; Randall A. Heidenreich ; 16: Acidosis ; Tina M. Cowan and Gregory M. Enns ; 17: Hypoglycemia ; Divya Vats and Seymour Packman ; 18: Hyperammonemia ; Gregory M. Enns and Tina M. Cowan ; 19: Hepatosplenomegaly ; Renata Gallagher ; 20: Hearing Loss ; Eloise Prijoles ; 21: Ear malformations ; Chad Haldeman-Englert and Helga V. Toriello ; 22: Eye malformations ; Graeme Black and Rachel Gillespie ; 23: Facial Clefting ; Marilyn C. Jones ; 24: Cardiac malformations ; Thomas Cushing and Joseph T.C. Shieh ; 25: Renal malformations ; Joseph T.C. Shieh ; 26: Limb malformations ; Leslie G. Biesecker and David B. Everman ; 27: Congenital contractures ; Judith G. Hall ; 28: Disorders of Sexual Development ; Christopher Cunniff ; 29: Skin pigmentations ; Anna L. Bruckner ; 30: Skin abnormalities ; Mary Beth Palko Dinulos ; 31: Spontaneous Abortion and Intrauterine Fetal Death ; Andrea Kwan and H. Eugene Hoyme