Autosomal Recessive Disorders
A: albinism ,alpha 1 antitrypsin deficiency
B: beta thalassemia
C: cystic fibrosis,CGD,CAH
D: deafness(SNHL),dubin johnson
E: enzyme deficiencies(glycogen storage and lysosomal storage)
F: Friedrich's ataxia, fanconi anemia
G: G6PD,galactosemia
H: Hemochromatosis
S: Sickle cell disease
P: Phenylketonuria
w: Wilson's
B: beta thalassemia
C: cystic fibrosis,CGD,CAH
D: deafness(SNHL),dubin johnson
E: enzyme deficiencies(glycogen storage and lysosomal storage)
F: Friedrich's ataxia, fanconi anemia
G: G6PD,galactosemia
H: Hemochromatosis
S: Sickle cell disease
P: Phenylketonuria
w: Wilson's
Puetz-Jeghers Syndrome
PJ
P: Pigmented lips and oral mucosa
J: Jejunal polyps
P: Pigmented lips and oral mucosa
J: Jejunal polyps
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