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Results 1 - 10 of 11 for Multiple congenital anomalies
  1. PIGT gene 
    ... PIGT gene also cause a rare condition called multiple congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have delayed ... leading 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
  2. HCFC1 gene 
    ... Villemeur T, Ogier de Baulny H, Benoist JF. Multiple congenital anomalies in two boys with mutation in HCFC1 and ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  3. DHCR7 gene 
    ... Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error ...
    https://medlineplus.gov/genetics/gene/dhcr7 - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  9. NOG gene 
    ... of the bones in the ears (stapes fixation).Multiple synostoses syndrome 1 is characterized by symphalangism and ... and characteristic facial features like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  10. ATN1 gene 
    ... building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. In most people, the ... gene can cause a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. Individuals with this condition have severe ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
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