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Some X-linked Recessive Traits

Some X-linked Recessive Traits
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Description: TABLE 4.2 Some X-Linked Recessive Traits
Trait
Adrenoleukodystroph y
Color blindness
Green blindness
Red blindness
Fabry disease
Glucose-6-phosphate
dehydrogenase
deficiency
Hemophilia A
Hemophilia B
Ichthyosis
Lesch-Nyhan
syndrome
Muscular dystrophy
Phenotype
Atrophy of adrenal glands; mental deterioration; death
I to 5 years after onset
Insensitivity to green light; 60 to 75% of color—blindness
cases
Insensitivity to red light; 25 to 40% of color-blindness
cases
Metabolic defect caused by lack of enzyme alpha—
galactosidase A; progressive cardiac and renal
problems; early death
Benign condition that can produce severe, even fatal,
anemia in presence of certain foods, drugs
Inability to form blood clots; caused by lack of clotting
factor VIII
”Christmas disease"; clotting defect caused by lack of
factor IX
Skin disorder causing large, dark scales on extremities,
trunk
Metabolic defect caused by lack of enzyme
hypoxanthine-guanine phosphoribosyl transferase
(HGPRT); causes mental retardation, self—mutilation,
early death
Duchenne—type, progressive; fatal condition
accompanied by muscle wasting
MIM Number
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