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Results 1 - 10 of 31 for Congenital anomalies
  1. 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
  2. Microphthalmia with linear skin defects syndrome 
    ... Genetic Testing Registry: Linear skin defects with multiple congenital anomalies 1 Microphthalmia with linear skin defects syndrome National ... NORD) ClinicalTrials.gov 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
  3. ADNP syndrome 
    ... 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
  4. 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
  5. Walker-Warburg syndrome 
    ... agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain and ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  6. Fryns syndrome 
    ... two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988 Dec;31(4):805-14. doi: 10.1002/ajmg.1320310413. Citation on PubMed ... KP; Congenital Diaphragmatic Hernia Study Group. Fryns syndrome in children ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  7. Klippel-Feil syndrome 
    ... Central Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. ... Karampinas PK, Vlamis J, Korres DS, Pneumaticos SG. Congenital variations of the ... homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet. 2013 Jan 10;92( ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  8. FG syndrome 
    ... 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
  9. Smith-Lemli-Opitz syndrome 
    ... 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
  10. Mowat-Wilson syndrome 
    ... 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
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