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Results 1 - 10 of 1,291 for Congenital defects
  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. 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
  3. 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
  4. Holt-Oram syndrome 
    ... Apostolidis C, Azariadis P, Chatzis A. Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - 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. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  9. Burn-McKeown syndrome 
    ... Burn-McKeown syndrome include mild short stature and congenital heart defects such as patent ductus arteriosus (PDA). The ductus ... have been shown to cause other conditions with abnormalities affecting the head and face (craniofacial malformations), so ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  10. Genitopatellar syndrome 
    ... syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.The genital ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
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