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Lung agenesis-heart defect-thumb anomalies syndrome

Disease definition

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.


Classification level: Disorder
  • Synonym(s):
    • Mardini-Nyhan syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q87.8
  • OMIM: 601612
  • UMLS: -
  • MeSH: -
  • GARD: 3378
  • MedDRA: -
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