Genetic Disorders Chart

Genetic Disorder Dominant/Recessive Malfunctioning Protein General Effects/Symptoms

 Pain in the back

 Physical deformity
Achondroplasia Dominant Fibroblast Growth Factor Receptor 3  Short stature
(FGFR3)  Excessive curvature of lower back
(Bone/limb growth)

 Blurred vision
Albinism Recessive Melanocytes  Astigmatism
(Production of Melanin, skin pigment)  Sensitive eyes
 Loss of skin color

 Abdominal pain
 Cough with heavy phlegm content
 Pulmonary hypertension
Cystic Fibrosis Recessive Transmembrane Conductance Regulator  Severe shortness of breath
(CFTR)  Heartburn
(Breaking down mucus/thick material that  Severe fatigue or inability to exercise
accumulates in the lungs)

 Convulsions
Galactosemia Dominant Galactose-1-Phosphate Uridylyltransferase  Irritability
(GALT)  Lethargy
(Metabolizing Galactose, sugar properly)  Poor weight gain
 Vomiting

 Amnesia
Huntington’s Disease Dominant Cytosine-Adenine-Guanine  Delusion
(CAG)  Lack of concentration
(Repeats triplet many unnecessary times,  Memory loss
which over time, damages brain cells)  Mental confusion/slowness in activity
 Genetic Disorders Chart

Genetic Disorder Dominant/Recessive Malfunctioning Protein General Effect/Symptoms

 Brain damage
Phenylketonuria Recessive Phenylalanine  Intellectual disabilities
(PKU) (Amino acid build-up in the body)  Muscular/psychomotor disabilities
 Seizures

 Muscular weakness
Tay-Sachs Recessive B-Hexosaminidase A  Coordination/psychomotor disability
(Heavy lipid build-up in the brain)  Rhythmic muscle contractions
 Stiff muscles