Inheritance

Question 1

Alport syndrome

Answer 1

X Linked Dominant

Question 2

Fabry Disease

Answer 2

X Linked Recessive

Question 3

Menke’s Disease

Answer 3

X Linked Recessive

Question 4

Becker Muscular Dystrophy

Answer 4

X Linked Recessive

Question 5

Fragile X syndrome

Answer 5

X Linked Dominant

Question 6

Hemophilia B

Answer 6

X Linked Recessive

Question 7

Kartagener syndrome

Answer 7

Autosomal Recessive

Question 8

Hypophosphatemic Rickets

Answer 8

X Linked Dominant

Question 9

Acute Intermittent Porphyria

Answer 9

Autosomal Dominant

Question 10

MELAS

Answer 10

Mitochondrial Inheritance

Mitochondrial myopathy, Encephalopathy, lactic acidosis, and stroke like episodes

Question 11

Pyruvate Dehydrogenase Complex Deficiency

Answer 11

X Linked Recessive

Question 12

Hereditary spherocytosis

Answer 12

Autosomal Dominant

Question 13

Ocular Albinism

Answer 13

X Linked Recessive

Question 14

Mucopolysaccharides (one exception what is it)

Answer 14

Autosomal Recessive
(exception: Hunter syndrome- X linked recessive)

Question 15

Hyper IgM syndrome

Answer 15

X Linked Recessive

Question 16

Phenylketonuria

Answer 16

Autosomal Recessive

Question 17

Albinism

Answer 17

Autosomal Recessive

Question 18

Duchenne Muscular dystrophy

Answer 18

X Linked Recessive

Question 19

Hemophilia A

Answer 19

X Linked Recessive

Question 20

Sideroblastic anemia

Answer 20

ALA synthase gene defect

Question 21

Lesch-Nyhan Syndrome

Answer 21

X Linked Recessive

Question 22

Cystic Fibrosis

Answer 22

Autosomal Recessive

Question 23

von Hippel-Lindau disease

Answer 23

Autosomal Dominant

Question 24

Ornithine Transcarbamylase Deficiency

Answer 24

X Linked Recessive

Question 25

Wilson Disease

Answer 25

Autosomal Recessive

Question 26

SCID (most common cause)

Answer 26

X Linked Recessive

Question 27

Bruton Agammaglobulinemia

Answer 27

X Linked Recessive

Question 28

Chronic Granulomatous disease

Answer 28

X Linked Recessive

Question 29

Thalassemias

Answer 29

Autosomal Recessive

Question 30

Familial Hypercholesterolemia

Answer 30

Autosomal Dominant

Question 31

Hunter Syndrome

Answer 31

X Linked Recessive

Question 32

Hemochromatosis

Answer 32

Autosomal Recessive

Question 33

Hereditary hemorrhagic telangiectasia

Answer 33

Autosomal Dominant

Question 34

Sphingolipidoses (one exception what is it)

Answer 34

``` Autosomal Recessive (exception: Fabry Disease- X linked recessive) ```

Question 35

Neurofibromatosis Type 2

Answer 35

Autosomal Dominant

Question 36

Li-Fraumeni syndrome

Answer 36

Autosomal Dominant

Question 37

Tuberous sclerosis

Answer 37

Autosomal Dominant

Question 38

Neurofibromatosis Type 1 (von Recklinghausen disease)

Answer 38

Autosomal Dominant

Question 39

Huntington disease

Answer 39

Autosomal Dominant

Question 40

G6PD Deficiency

Answer 40

X Linked Recessive

Question 41

Achondroplasia

Answer 41

Autosomal Dominant

Question 42

Leigh syndrome

Answer 42

Mitochondrial Inheritance

Question 43

Red Green Color Blindness

Answer 43

X Linked Recessive

Question 44

Sickle Cell Anemia

Answer 44

Autosomal Recessive

Question 45

Adrenoleukodystrophy

Answer 45

X Linked Recessive

Question 46

IPEX

Answer 46

X Linked Recessive | Immune dysregulation polyendocrinopathy Enteropathy X linked syndrome

Question 47

Glycogen storage diseases

Answer 47

Autosomal Recessive

Question 48

Multiple Endocrine Neoplasias

Answer 48

Autosomal Dominant

Question 49

Wiskott Aldrich Syndrome

Answer 49

X Linked Recessive

Question 50

Marfan syndrome

Answer 50

Autosomal Dominant

Question 51

FAP

Answer 51

Autosomal Dominant