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Results 1 - 10 of 39 for Child syndrome
  1. NSDHL gene 
    ... the NSDHL gene have been found to cause CHILD syndrome, a condition that can affect the development of ... cholesterol synthesis leads to the specific features of CHILD syndrome. More About This Health Condition Variants in the ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  2. MTR gene 
    ... variant also increases the risk of having a child with Down syndrome, which is a condition characterized by intellectual disability ... homocysteinemia are three risk factors for having a child with Down syndrome. Am J Med Genet A. 2003 Sep 1; ...
    https://medlineplus.gov/genetics/gene/mtr - Genetics
  3. MTRR gene 
    ... may also increase the risk of having a child with Down syndrome, a condition characterized by intellectual disability and associated ...
    https://medlineplus.gov/genetics/gene/mtrr - Genetics
  4. COMT gene 
    ... on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychol. 2005 Feb;11(1):109-17. doi: ...
    https://medlineplus.gov/genetics/gene/comt - Genetics
  5. HPSE2 gene 
    ... a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569- ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  6. SMC1A gene 
    ... of Function Epilepsy Distinct From Cornelia de Lange Syndrome. J Child Neurol. 2022 Apr;37(5):390-396. doi: 10.1177/08830738221081244. Epub 2022 Mar 3. Citation on PubMed Borck ... Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat. 2007 Feb; ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  7. NKX2-1 gene 
    ... part of the spectrum of brain-thyroid-lung syndrome. J Child Neurol. 2014 May;29(5):666-9. doi: ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  8. VLDLR gene 
    ... autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24(10):1310-5. doi: ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  9. SOS1 gene 
    ... M, Rodriguez-Santos F. Cognitive profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137- ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  10. HNF1B gene 
    ... the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child. 2015 Mar;100(3):259-64. doi: 10. ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
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