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6,252 Possible Causes for Marked Macular Degeneration, Mutation in the TTLL5 Gene, Pediatric Disorder

  • Congenital Dyserythropoietic Anemia

    Additional findings include retinal angioid streaks, macular degeneration, and monoclonal gammopathy with or without multiple myeloma.[ncbi.nlm.nih.gov] Hereditary Elliptocytosis and Related Disorders Pediatric Lead Toxicity Pediatric Megaloblastic Anemia Pediatric Myelodysplastic Syndrome Sickle Cell Anemia Transient Erythroblastopenia[emedicine.medscape.com] […] hematologic disorders, including newly recognized ones.[books.google.es]

    Missing: Mutation in the TTLL5 Gene
  • 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]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 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: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Acute Alcohol Intoxication

    Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments, Pediatrics[academic.oup.com] 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 American[academic.oup.com]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 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: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Neuronal Ceroid Lipofuscinosis Type 3

    A “bull's eye” type of macular degeneration appears as an early feature. Degeneration of the peripheral retina becomes more marked with time.[journals.lww.com] Research Article - Current Pediatric Research (2017) Volume 21, Issue 2 The Neuronal Ceroid-Lipofuscinoses (NCL) is a group of rare neurodegenerative disorders characterized[alliedacademies.org] Nelson Textbook of Pediatrics. 17th ed. Elsevier Saunders. Philadelphia, PA; 2005:2032. Dyken PR. Batten Disease. In: NORD Guide to Rare Disorders.[rarediseases.org]

    Missing: Mutation in the TTLL5 Gene
  • Amaurotic Familial Idiocy

    degeneration in a twelve month old child with marked weakness of the trunk and limbs [2].[kundoc.com] The course of the disorder is directly influenced by the presence or absence of intractable seizures. Received November 22, 1968. Accepted June 1, 1969.[pediatrics.aappublications.org] […] a G MI ganglioside (Table I), and the predominant fraction in the systemic late infantile variety is a G M1 ganglioside G HISTORIC Warren Tay in 1881 observed cherry-red macular[kundoc.com]

    Missing: Mutation in the TTLL5 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: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Urinary Tract Infection

    Abstract Urinary tract infections (UTIs) are among the most common bacterial infections acquired in the community and in hospitals. In individuals without anatomical or functional abnormalities, UTIs are generally self limiting, but have a propensity to recur. Uropathogens have specialized characteristics, such as the[…][oadoi.org]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Foveal Retinoschisis

    January 16, 2019 by Mark Evans X‐linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading[ieek1eoawdvdq7e.changeip.net] Indirect ophthalmoscopy revealed marked myopic degeneration with areas of choroidoretinal atrophy within the posterior staphyloma in both eyes ( Fig. 2A ).[onlinelibrary.wiley.com] Optical coherence tomography demonstrated macular retinoschisis with foveal detachment in both eyes ( Fig. 2B ).[onlinelibrary.wiley.com]

    Missing: Mutation in the TTLL5 Gene