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Results 1 - 10 of 18 for Multiple congenital anomalies
  1. Microphthalmia with linear skin defects syndrome 
    ... 7 Genetic Testing Registry: Linear skin defects with multiple congenital anomalies 1 Microphthalmia with linear skin defects syndrome National ... for Rare Disorders (NORD) LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 PubMed Morleo M, Franco B. Microphthalmia ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  2. ADNP syndrome 
    ... intellectual disability and autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  3. Fryns syndrome 
    ... of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988 Dec; ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  4. FG syndrome 
    ... MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  5. Mowat-Wilson syndrome 
    ... and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  6. X-linked chondrodysplasia punctata 2 
    ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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