Health problem caused by one or more abnormalities in the genome
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Instances
10
Influences rating
Influences rating
Alström syndrome
Abetalipoproteinemia
Fabry disease
IPEX syndrome
Familial Amyloidosis, Finnish Type
Microcephaly with spastic diplegia
Overgrowth syndrome
LIG4 syndrome
BRCA1 hereditary breast and ovarian cancer syndrome
BRCA2 hereditary breast and ovarian cancer syndrome
Subclasses
72
Tetralogy of Fallot
WolffâParkinsonâWhite syndrome
Acrodermatitis enteropathica
Cornelia de Lange syndrome
Congenital heart defect
Postural orthostatic tachycardia syndrome
Central hypoventilation syndrome
Wolfram syndrome
respiratory underresponsiveness to hypoxia and hypercapnia