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Results 81 - 90 of 168 for Child syndrome
  1. Bare lymphocyte syndrome type II 
    ... major histocompatibility complex class II deficiency. Arch Dis Child. 2000 Oct;83(4):356-9. doi: 10.1136/adc.83.4.356. Citation on PubMed or Free article on PubMed Central Shrestha D, Szollosi J, Jenei A. Bare lymphocyte syndrome: an opportunity to discover our immune system. Immunol ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  2. Jervell and Lange-Nielsen syndrome 
    ... have mutations. Most often, the parents of a child with an autosomal recessive disorder are not ... long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of ...
    https://medlineplus.gov/.../jervell-and-lange-nielsen-syndrome - Genetics
  3. KBG syndrome 
    ... A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  4. 2q37 deletion syndrome 
    ... for reasons that are unknown. When an affected child inherits a chromosomal deletion from a ... syndrome Albright hereditary osteodystrophy-like syndrome Brachydactyly-mental retardation ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  5. ALX4 gene 
    ... a review of genetics, prognosis, radiology, and treatment. Childs Nerv Syst. 2013 Apr;29(4):543-7. doi: 10.1007/s00381-012-1982-7. Epub 2012 Dec 4. Citation on PubMed Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics
  6. Marfan syndrome 
    ... Mar 30. Citation on PubMed Chaffins JA. Marfan syndrome. Radiol Technol. 2007 Jan-Feb;78(3):222-36; quiz 237-9. Citation on PubMed Faivre L, Masurel-Paulet A, Collod-Beroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  7. Trisomy 18 
    ... LD. Fetal echocardiography in trisomy 18. Arch Dis Child Fetal Neonatal Ed. ... Two cases of isochromosome 18q syndrome. Singapore Med J. 2007 May;48(5):e146- ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  8. Deafness and myopia syndrome 
    ... birth (congenital) or begins in infancy, before the child learns to speak ... prevalence of deafness and myopia syndrome is unknown. Only a few affected families have ...
    https://medlineplus.gov/.../condition/deafness-and-myopia-syndrome - Genetics
  9. Hereditary leiomyomatosis and renal cell cancer 
    ... one mutated copy of the gene to a child and are potential carriers of fumarase deficiency, but they do not ... Genetic Testing Registry: Hereditary leiomyomatosis and renal cell ...
    https://medlineplus.gov/...tary-leiomyomatosis-and-renal-cell-cancer - Genetics
  10. Pallister-Killian mosaic syndrome 
    ... to the genetic makeup of a child, the child will have two normal copies of ... mosaic syndrome are caused by mosaicism for an isochromosome 12p. ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
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