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Results 1 - 10 of 39 for Child syndrome
  1. NSDHL gene 
    ... congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). Most of these mutations change single protein building ... cholesterol synthesis leads to the specific features of CHILD syndrome. More About This Health Condition H105E3 NSDHL_HUMAN ...
    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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