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Results 1 - 10 of 18 for Congenital malformation syndrome
  1. PIK3CA gene 
    ... include hemimegalencephaly; fibroadipose hyperplasia; and a condition called congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal abnormalities (CLOVES) syndrome. Hemimegalencephaly is characterized by enlargement of one side ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  2. FREM1 gene 
    ... This Health Condition MedlinePlus Genetics provides ... malformations syndrome, sometimes called BNAR. These mutations change single protein ...
    https://medlineplus.gov/genetics/gene/frem1 - Genetics
  3. GNAQ gene 
    ... alpha Tests of GNAQ ... EH, Juhasz C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES; 2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  4. ATN1 gene 
    ... gene can cause a very rare condition called congenital hypotonia, epilepsy, ... brain malformations. The ATN1 gene variants that cause CHEDDA syndrome ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  5. PAX6 gene 
    ... available. Citation on PubMed Hanson IM. PAX6 and congenital eye malformations. Pediatr Res. 2003 Dec;54(6):791-6. ... RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  6. MKKS gene 
    ... gene have been found to cause McKusick-Kaufman syndrome. McKusick-Kaufman syndrome is a condition that affects the development of ... variants have been found to cause McKusick-Kaufman syndrome in the Old Order Amish population. Each of ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  7. TUBB3 gene 
    ... Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in ... Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22;29(8):3561- ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  8. GJA1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Heterotaxy syndrome More About This Health Condition Mutations in one ... no known cause in infancy (sudden infant death syndrome) or early adulthood (sudden unexplained nocturnal death). Doctors ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  9. WT1 gene 
    ... gene have been found to cause Denys-Drash syndrome, a condition that affects development of the kidneys ... the body. The variants that cause Denys-Drash syndrome almost always occur in areas of the gene ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  10. FOXG1 gene 
    ... memory. Changes involving the FOXG1 gene cause FOXG1 syndrome, a rare disorder characterized by impaired development and ... previously described as a congenital variant of Rett syndrome, which is a similar disorder of early development. ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
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