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Results 1 - 10 of 17 for Congenital respiratory system disorder
  1. Congenital bilateral absence of the vas deferens 
    Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although ...
    https://medlineplus.gov/...tal-bilateral-absence-of-the-vas-deferens - Genetics
  2. ALG1-congenital disorder of glycosylation 
    ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited ... Carbohydrate deficient glycoprotein syndrome type Ik CDG1K CDGIk Congenital disorder of glycosylation type 1K Mannosyltransferase 1 deficiency ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  3. Alveolar capillary dysplasia with misalignment of pulmonary veins 
    ... identified. ACD ACD/MPV ACDMPV Alveolar capillary dysplasia Congenital alveolar capillary dysplasia Familial persistent pulmonary hypertension of ... vessels Genetic Testing Registry: Persistent fetal circulation syndrome Congenital alveolar capillary dysplasia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...asia-with-misalignment-of-pulmonary-veins - Genetics
  4. CLN10 disease 
    ... deficiency Cathepsin D deficient neuronal ceroid lipofuscinosis CLN10 Congenital neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10 Neuronal ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
  5. Bloom syndrome 
    ... condition. Bloom's syndrome Bloom-Torre-Machacek syndrome Congenital telangiectatic erythema Genetic Testing Registry: Bloom syndrome Bloom ...
    https://medlineplus.gov/genetics/condition/bloom-syndrome - Genetics
  6. Tyrosinemia 
    ... peripheral neuropathy), abdominal pain, and serious breathing problems (respiratory ... have a variant to cause the disorder. The parents of an individual with an autosomal ...
    https://medlineplus.gov/genetics/condition/tyrosinemia - Genetics
  7. PRKAG2 gene 
    ... very severe form of heart disease called lethal congenital glycogen storage disease of the heart. People with ... PRKAG2 PubMed GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2 ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  8. Cystic fibrosis 
    ... reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a ...
    https://medlineplus.gov/genetics/condition/cystic-fibrosis - Genetics
  9. CARD11 gene 
    ... Fleisher TA, Staudt LM, Su HC, Lenardo MJ. Congenital B cell lymphocytosis explained by novel germline CARD11 ...
    https://medlineplus.gov/genetics/gene/card11 - Genetics
  10. Renal tubular dysgenesis 
    ... hypoperfusion during fetal development. These include heart problems, congenital hemochromatosis, and a complication that can occur in ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics
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