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Results 1 - 10 of 150 for Congenital defect
  1. Nonsyndromic aplasia cutis congenita 
    ... condition. ACC Congenital absence of skin on scalp Congenital defect of the skull and scalp Congenital ulcer of the newborn Scalp defect congenital Genetic Testing Registry: Aplasia cutis congenita Aplasia cutis ...
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita - Genetics
  2. Hereditary folate malabsorption 
    ... not show signs and symptoms of the condition. Congenital defect of folate absorption Congenital folate malabsorption Folic acid transport defect Genetic Testing Registry: Congenital defect of folate absorption Hereditary folate malabsorption National Organization ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  3. Congenital bile acid synthesis defect type 1 
    ... it is the most common of all the congenital defects of bile acid synthesis. Together, these conditions are ... Organization for Rare Disorders (NORD) BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 PubMed Cheng JB, Jacquemin E, Gerhardt ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  4. Congenital bile acid synthesis defect type 2 
    ... synthesis defect type 2 is unknown. Together, all congenital defects of bile acid synthesis are thought to have ... Rare Disorders (NORD) ClinicalTrials.gov BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 PubMed Clayton PT. Disorders of bile ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  5. Critical congenital heart disease 
    ... with people in the general population. CCHD Critical congenital heart defects Genetic Testing Registry: Congenital heart disease Genetic Testing Registry: Congenital heart defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  6. Congenital diaphragmatic hernia 
    ... according to the inheritance pattern for that condition. Congenital diaphragmatic defect Genetic Testing Registry: Diaphragmatic hernia 2 Genetic Testing ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  7. Adams-Oliver syndrome 
    ... Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  8. Holt-Oram syndrome 
    ... Apostolidis C, Azariadis P, Chatzis A. Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. Int J Surg Case Rep. 2014;5(7):389-92. doi: ... mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  9. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development ...
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  10. Heterotaxy syndrome 
    ... syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears ... as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
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