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6,230 Possible Causes for All Reported Mutations Have Occurred De Novo, Mutation in the ADNP Gene, Pediatric Disorder

  • Helsmoortel-van der Aa Syndrome

    Helsmoortel-Van der Aa syndrome is a condition caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.[en.wikipedia.org] Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com]

  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[ncbi.nlm.nih.gov] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr . 2009 Nov. 49(5):580-3. [Medline] .[emedicine.medscape.com] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr. 2009 Nov. 49(5):580-3. [Medline].[emedicine.medscape.com]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children . Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Acute Alcohol Intoxication

    The inactive ALDH2(2) allele is dominant , J Clin Invest , 1989 , vol. 83 (pg. 314 - 6 ) Diagnostic and Statistical Manual of Mental Disorders , 2000 4th ed Washington, DC[academic.oup.com] American Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments , Pediatrics[academic.oup.com]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] TIS is a disorder where severe problems in how the chest, spine, and ribs are formed prevent normal breathing and lung development.[rarediseases.org]

    Missing: Mutation in the ADNP Gene
  • Constipation

    Mousa, The value of fluoroscopic defecography in the diagnostic and therapeutic management of defecation disorders in children, Pediatric Radiology, 45, 2, (173), (2015).[doi.org] Major symptoms and signs of digestive tract disorders. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed.[nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Anemia

    One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[childrenshospital.org] In addition to an experienced, compassionate nurse coordinator (who provides your child and family support, education and care coordination), Nemours’ pediatric blood disorder[nemours.org] How can I manage anemia if my child has an inherited red blood cell disorder?[healthychildren.org]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Urinary Tract Infection

    Background: Failure to timely diagnose and treat urinary tract infections is associated with grave long term consequences. The objectives of this study included assessing the proportion and predictors of Urinary Tract Infection (UTI) as a cause of pediatric outpatient department (OPD) visits and determining[…][ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Depression

    [Pediatr Ann. 2018;47(7):e261-e265.]. Copyright 2018, SLACK Incorporated.[ncbi.nlm.nih.gov] This includes serious adult psychiatric illnesses such as major depressive disorder, anxiety disorders, and substance abuse.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene
  • Acne Vulgaris

    Tollefson, Endocrine disorders and hormonal therapy for adolescent acne, Current Opinion in Pediatrics, 10.1097/MOP.0000000000000515, 29, 4, (455-465), (2017).[doi.org] Consensus statement on management of intersex disorders. J Pediatr Urol 2006 ; 2: 148 62 Google Scholar Crossref Medline 55. Hughes, IA.[doi.org] Read More Pediatric Dermatology Corrective Camouflage in Pediatric Dermatology Author: Tedeschi A Dall'oglio F Micali G Schwartz RA Janniger CK Many dermatologic diseases,[mdedge.com]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the ADNP Gene