Symptom
Department of Genetic Diseases
- Phenylalanine metabolic disorder
- Gene fusion
- Autosomal aberration
- Superfemale
- Hyperandrogenicity
- Fragile X syndrome
- Dibasic amino aciduria
- Dicarboxylic amino acid urine
- Hyperhomocysteinemia
- Cystine storage disease
- Trehalase deficiency
- Angular nail arc shadow
- Tuberous sclerosis
- Thumb sign
- Birdlike pointed nose
- More uroporphyrin in urine
- Symmetrical atrophy of peroneal muscle gradually develops upward
- Chromosomal abnormality
- The appearance gradually becomes clumsy
- SM accumulation increases
- Nail bone tetralogy
- The lower part of the body is shorter than the upper part
- Horizontal palmar crease (through the hand)
- Speak with a nasal sound
- Medullary sponge kidney
- Penetrating palm
- Congenital factor X deficiency
- Single pleat of little finger
- Severe pseudoobesity macrodystrophy
- genetic obesity
- Hereditary fructose intolerance