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Results 1 - 10 of 54 for Congenital anomaly
  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. FRAS1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract More About This ... described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). A ...
    https://medlineplus.gov/genetics/gene/fras1 - Genetics
  3. FREM2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract More About This ... described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). The ...
    https://medlineplus.gov/genetics/gene/frem2 - Genetics
  4. PIGT gene 
    ... gene also cause a rare condition called multiple congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have delayed ... to the varied signs and symptoms of multiple congenital anomalies-hypotonia-seizures syndrome 3. CGI-06 MCAHS3 NDAP ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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