Single Gene Disorders (X-Linked Dominant Disorders & X-Linked Recessive Disorders)

Which neurological and developmental disorder causes progressive loss of speech and motor skills?

Rett Syndrome

What are the clinical manifestations of Rett Syndrome?

Loss of speech; loss of muscle tone; loss of purposeful hand use; gait disturbances; breathing issues; slowed growth of head

Which disorder is characterized by kidney disease

hearing loss

What are the clinical manifestations of Alport Syndrome?

Kidney disease; hearing loss; eye abnormalities

Which disorder is characterized by low levels of phosphate in the blood?

X-linked Hypophosphatemia

What are the clinical features of X-linked Hypophosphatemia?

Bowed/bent legs; short stature; bone pain; severe dental pain

Which X-linked disorder is a bleeding disorder caused by deficiency or dysfunction of coagulation factors?

Hemophilia

What causes Hemophilia A?

Factor VIII deficiency

What is Hemophilia A also called?

Classic Hemophilia

What causes Hemophilia B?

Factor IX deficiency

What is Hemophilia B also called?

Christmas Disease

What are the clinical manifestations of Hemophilia?

Bleeding disorder

Which genetic condition causes developmental problems

learning disabilities

What are the clinical features of Fragile X Syndrome?

Broad forehead; elongated face; large prominent ears; strabismus; high-arched palate; hypotonia

Which disorder causes inability to distinguish between certain colors?

Color Blindness

What is the main clinical feature of Color Blindness?

Difficulty distinguishing certain colors

Which disorder causes progressive muscle degeneration and weakness due to alterations of dystrophin?

Duchenne Muscular Dystrophy

What are the clinical features of Duchenne Muscular Dystrophy?

Progressive muscle degeneration and weakness

What protein is affected in Duchenne Muscular Dystrophy?

Dystrophin