Genetics Flashcards
Marfan syndrome
Autosomal dominant
Hereditary hemorrhagic telangiectasia
Autosomal dominant
Rett syndrome
X-linked dominant
Infantile polycystic kidney disease
Autosomal recessive
Phenylketonuria
Autosomal recessive
Familial hypercholesterolemia
Autosomal dominant
Myotonic type 1 (myotonic dystrophy)
Autosomal dominant - CTG
Lysosomal storage diseases (except Fabry disease)
Autosomal recessive
Fabry disease
X-linked recessive
Sickle cell disease
Autosomal recessive
Familial adenomatous polyposis
Autosomal dominant
Kartagener syndrome
Autosomal recessive
Neurofibromatosis type 1 (von Recklinghausen disease)
Autosomal dominant
Wilson disease
Autosomal recessive
Wiskott-Aldrich syndrome
X-linked recessive
Ocular albinism
X-linked recessive
Hypophosphatemic rickets
X-linked dominant
Cystic fibrosis
Autosomal recessive
Friedrich ataxia
Autosomal recessive - GAA
Li-Fraumeni syndrome
Autosomal dominant
Hemophilia C
Autosomal recessive
Ornithine transcarbamylase deficiency
X-linked recessive
Mucopolysaccharidoses (except Hunter syndrome)
Autosomal recessive
Hemochromatosis
Autosomal recessive
