Cytogen

Question 1

inability to see color

Answer 1

Achromatopsia

Question 2

reduction in adrenal gland function

Answer 2

Adrenal Hypoplasia Congenita

Question 3

no melanin pigment in eyes, skin and hair

Answer 3

Albinism/Hypopigmentation

Question 4

degenerative disease starting with memory loss

Answer 4

Alzheimer’s

Question 5

poor or indistinct vision

Answer 5

Amblyopia

Question 6

immunodeficiency disorder

Answer 6

Ataxia Telangiectasia

Question 7

brain development disorder

Answer 7

Autism

Question 8

Fatal, autosomal recessive neurodegenerative disorder

Answer 8

Batten Disease

Question 9

progressive vision loss

Answer 9

Best’s Disease

Question 10

physical disability in human development

Answer 10

Cerebral Palsy

Question 11

Color Blindness

Answer 11

Color Blindness

Question 12

formation of abnormal hemoglobin molecules

Answer 12

Cooley’s Anemia/Thalassemia

Question 13

progressive disability due to multisystem failure

Answer 13

Cystic Fibrosis

Question 14

autosomal recessive disorder of the renal tubules

Answer 14

Cystinosis

Question 15

Diabetes

Answer 15

Diabetes

Question 16

Impairment of cognitive ability, physical growth & facial appearance

Answer 16

Down Syndrome

Question 17

disorder of the autonomic nervous system

Answer 17

Epidermolysis Bullosa

Question 18

disorder of the autonomic nervous system

Answer 18

Familia Dystautonomia

Question 19

Deficiency Anemia

Answer 19

G6PD (Glucose-6-phosphate Dehydrogenase)

Question 20

deficiency of the enzyme glucocerebrosidase

Answer 20

Gaucher’s Disease

Question 21

disease of the optic nerve

Answer 21

Glaucoma

Question 22

inefficient control over blood clotting or coagulation

Answer 22

Hemophilia/Bleeding Disorders

Question 23

abnormal body movements

Answer 23

Huntington’s Disease

Question 24

abnormal body movements

Answer 24

Hurler Syndrome

Question 25

small testicles and reduced fertility

Answer 25

Klinefelter Syndrome

Question 26

fatal degenerative disorder of nervous system

Answer 26

Krabbe Disease

Question 27

loss of vision

Answer 27

Leber Congenital Amaurosis

Question 28

progressive degeneration of the white matter of the brain

Answer 28

Leukodystrophies

Question 29

progressive muscle weakness

Answer 29

Muscular Dystrophy

Question 30

disorder affecting lipid metabolism

Answer 30

Neimann-Pick Disease

Question 31

bening hamartomatous polyps in gastrointestinal tract

Answer 31

Peutz-Jeghers Syndrome

Question 32

deficiency in enzyme phenylalanine hydroxylase

Answer 32

Phenylketonuria (PKU)

Question 33

accelerated aging

Answer 33

Progeria

Question 34

dropping upper eyelid or breasts

Answer 34

Ptosis

Question 35

abnormal,rigid, sickle shape of red blood cells

Answer 35

Sickle cell Anemia

Question 36

Abnormal bone and cartilage development

Answer 36

Skeletal Dysplasias

Question 37

incompletely formed spinal cord

Answer 37

Spina Bifida

Question 38

usually affects nervous tissue of the brain

Answer 38

Tay-Sachs Disease

Question 39

premature aging

Answer 39

Werner Syndrome

Question 40

“elfin” facial appearance, with low nasal bridge

Answer 40

Williams Syndrome