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Results 1 - 10 of 24 for Congenital heart "defects," multiple "types," 2
  1. Critical congenital heart disease 
    ... THE GREAT ARTERIES, DEXTRO-LOOPED; DTGA HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  2. 48,XXYY syndrome 
    ... thin tooth enamel, crowded or misaligned teeth, and multiple ... congenital heart defects, and an inflammatory condition in the throat ( ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  3. BRAF gene 
    ... can lead to melanoma in people with giant congenital melanocytic nevus. More About This ... spots (lentigines), heart defects, short stature, a sunken or protruding chest, and ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  4. Spinal muscular atrophy 
    ... respiratory failure. Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).Spinal muscular atrophy type I (also called Werdnig- ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  5. Abdominal wall defect 
    ... be born prematurely. Individuals with omphalocele frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often ...
    https://medlineplus.gov/genetics/condition/abdominal-wall-defect - Genetics
  6. Congenital diaphragmatic hernia 
    ... of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  7. Multiple pterygium syndrome 
    ... of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  8. DOORS syndrome 
    ... DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. Am J Med Genet. 2002 Dec 15;113(4):371-4. doi: 10.1002/ajmg.b.10804. Citation on PubMed
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  9. PHOX2B gene 
    ... controls body functions such as breathing, blood pressure, heart rate, and ... is repeated multiple times. These stretches of alanines are known as ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics
  10. Congenital generalized lipodystrophy 
    ... to the features described above, some people with congenital generalized ... development, joint abnormalities, a narrowing of the lower part of the ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
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