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Results 11 - 20 of 30 for Multiple congenital anomalies
  1. EBP gene 
    ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  2. Smith-Lemli-Opitz syndrome 
    ... Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  3. Critical congenital heart disease 
    ... Testing Registry: Congenital heart disease Genetic Testing Registry: Congenital heart defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly Genetic Testing Registry: Hypoplastic left heart syndrome Genetic ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  4. Congenital anomalies of kidney and urinary tract 
    Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other ... disorder in their family. CAKUT Genetic Testing Registry: Congenital anomaly of kidney and urinary tract National Organization for ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  5. Esophageal atresia/tracheoesophageal fistula 
    ... WITHOUT ESOPHAGEAL ATRESIA PubMed Achildi O, Grewal H. Congenital anomalies of the esophagus. Otolaryngol Clin North Am. 2007 ... Central El-Gohary Y, Gittes GK, Tovar JA. Congenital anomalies of the esophagus. Semin Pediatr Surg. 2010 Aug; ...
    https://medlineplus.gov/...phageal-atresia-tracheoesophageal-fistula - Genetics
  6. PAX2 gene 
    ... vary in severity and are grouped together as congenital anomalies of kidney and urinary tract (CAKUT). The most ... Morello W, Taroni F, Montini G. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  7. HNF1B gene 
    ... vary in severity and are grouped together as congenital anomalies of kidney and urinary tract (CAKUT). The most ... manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. Clin Kidney ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  8. MTHFR gene 
    ... Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000 May ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  9. Cytochrome P450 oxidoreductase deficiency 
    ... P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations. Sci Signal. 2012 Oct 23;5( ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  10. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain ... affected individuals also have heart abnormalities, such as congenital heart defects or heart ... (NORD) MITOCHONDRIAL DNA ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
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