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Modes of Inheritance


ADPKD Autosomal dominant
FAP Autosomal dominant
Familial hypercholesterolemia Autosomal dominant
Hereditary hemorrhagic telangiectasia Autosomal dominant
Hereditary spherocytosis Autosomal dominant
Huntington Disease Autosomal dominant
Li Fraumeni Syndrome Autosomal dominant
Marfan Syndrome Autosomal dominant
MEN Autosomal dominant
NF1 Autosomal dominant
NF2 Autosomal dominant
Tuberous sclerosis Autosomal dominant
vHL disease Autosomal dominant
Albinism Autosomal recessive
ARPKD Autosomal recessive
cystic fibrosis Autosomal recessive
glycogen storage diseases Autosomal recessive
hemochromatosis Autosomal recessive
Kartagener syndrome Autosomal recessive
Mucopolysaccharidoses except hunter Autosomal recessive
PKU Autosomal recessive
Sickle cell anemia Autosomal recessive
sphingolipidoses except fabry Autosomal recessive
thalassemias Autosomal recessive
Wilson disease Autosomal recessive
Bruton agammaglobulinemia X linked recessive
Wiskott Aldrich X linked recessive
Fabry dosease X linked recessive
G6PD deficiency X linked recessive
Duchenne and Becker X linked recessive
Hunter syndrome X linked recessive
Hemophilia A and B X linked recessive
Ornithine transcarbamylase deficiency X linked recessive
What chromosome is PKD1 ch 16
What chromosome is PKD 2 ch 4
5q APC gene FAP
abnormal p53 Li Fraumeni
FBN1 gene mutation on ch15 Marfan
RET gene mutation MEN2
NF1 location ch17
NF2 location ch22
VHL location ch3
Function of dystrophin gene anchor muscle fibers: intracellular cytoskeleton to a and B dystroglycan
DMPK gene myotonic type 1
FMR1 gene Fragile X
CFTR gene location ch 7
deletion of what AA in cystic fibrosis Phe
Created by: Syrica



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