Symptom
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