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Results 1 - 10 of 58 for "malformation," congenital
  1. 17q12 deletion syndrome 
    17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  2. 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
  3. GNAQ gene 
    ... alpha Tests of GNAQ PubMed MELANOMA, UVEAL CAPILLARY MALFORMATIONS, CONGENITAL; CMC GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  4. McKusick-Kaufman syndrome 
    ... condition. HMCS Hydrometrocolpos syndrome Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Hydrometrocolpos-postaxial polydactyly syndrome Kaufman-McKusick syndrome MKS ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  5. Parkes Weber syndrome 
    Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, ...
    https://medlineplus.gov/genetics/condition/parkes-weber-syndrome - Genetics
  6. Down syndrome 
    ... on PubMed Shapiro BL. Down syndrome and associated congenital malformations. J Neural Transm Suppl. 2003;(67):207-14. ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  7. Trisomy 18 
    ... Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among liveborn infants with trisomies 18 and 13. ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  8. Trisomy 13 
    ... Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among liveborn infants with trisomies 18 and 13. ...
    https://medlineplus.gov/genetics/condition/trisomy-13 - Genetics
  9. Coloboma 
    ... article on PubMed Central Guercio JR, Martyn LJ. Congenital malformations of the eye and orbit. Otolaryngol Clin North ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  10. Chromosome 20 
    ... Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
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