Department of Genetic Diseases

• Phenylalanine metabolism disorder
• Gene fusion
• Autosomal aberrations
• Super female
• Super male
• Fragile X Syndrome
• Dibasic amino aciduria
• Dicarboxyamino acid urine
• Hyperhomocysteinemia
• Cystine storage disease
• Trehalase deficiency
• Angled arc shadow
• Tuberous sclerosis
• Thumb sign
• Beak-like nose
• More urinary porphyrins in the urine
• Symmetrical atrophy of the peroneal muscle gradually progresses upward
• Chromosomal abnormalities
• Appearance gradually becomes rough
• Increased SM accumulation
• Nail-bone tetralogy
• The lower part of the body is shorter than the upper part
• Horizontal palm pleats (through the hand)
• Speak nasally
• Medullary sponge kidney
• Pass through the palm
• Congenital factor X deficiency
• Pinky single pleat
• Severe pseudotrophic malnutrition
• Hereditary obesity
• Hereditary fructose intolerance