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6,392 Possible Causes for All Reported Mutations Have Occurred De Novo, Cognitive Developmental Delay, Pediatric Disorder

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  • Velocardiofacial Syndrome

    Behavior, brain, and genome in genomic disorders: Finding the correspondences. Journal of Developmental and Behavioral Pediatrics, 31 , 602–609.[] Management for infants and preschoolers is usually centered on correcting feeding difficulties and developmental delays, however, in children of school age, treatment is centered[] He is Professor of Otolaryngology and Professor of Pediatrics at Upstate.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Hartnup Disease

    Smoller, Nutritional Disorders, Pediatric Dermatopathology, 10.1007/978-3-319-44824-4_15, (309-315), (2017).[] Pediatrics. 2001; 107 :E46. [ PubMed ] [ Google Scholar ] 7. Ozalp I, Saatçi U, Hassa R. A case of Hartnup disorder with hypoalbuminemia and edema.[] Inborn errors of metabolism and metabolic disorders. In : Textbook of Pediatrics (Udani PM, ed), Vol 2. Jaypee Brothers, 1991; 2362. 3. Halvorsen K, Halvorsen S.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Alpha-Mannosidosis

    Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[] Physical findings: Cognitive and motor developmental delay, or intellectual disability; hepatosplenomegaly (enlargement of the liver and spleen), large head, protruding forehead[] Pediatrics, 114, 909-916. [2] Meikle, P., Hopwood, J., Clague, A., & Carey, W. (1999). Prevalence of lysosomal storage disorders.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Hereditary Orotic Aciduria

    Topics: Inborn Errors Of Metabolism Metabolic Disorders Pediatrics[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Helsmoortel-van der Aa Syndrome

    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.[] To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[] 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[]

  • Iron Deficiency

    Our doctors are nationally known for treating children who have blood disorders.[] The latter include decreased aerobic work performance, hair loss, developmental delay, cognitive and intellectual impairment, adverse pregnancy outcome, and impaired immune[] Reversal of developmental delays in iron-deficient anaemic infants treated with iron. Lancet 1993;341(8836):1-4. Lozoff B, Jimenez E, Wolf AW.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • 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.[] Laboratory tests defining iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates, and literature addressing the efficacy[] In addition to an experienced, compassionate nurse coordinator (who provides your child and family support, education and care coordination), Nemours’ pediatric blood disorder[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Iron Deficiency Anemia

    Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital.[] […] functioning tests, as well as behavioral delays, trials showing that treatment improves these outcomes are lacking.[] Author information 1 Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Klinefelter Syndrome

    disorders, resulting in a rise in the diagnosis and early referral to the pediatric endocrinologist.[] In the cognitive domain language-based developmental delays have been some of the most common findings in individuals with KS.[] While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Waisman Syndrome

    Abstract: Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR[] delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[] […] predisposition disorder caused by changes in the imprinted gene loci on chromosome 11p15.[]

    Missing: All Reported Mutations Have Occurred De Novo