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- Phenylketonuria
- GLDC : glycine decarboxylase
- ALAD : aminolevulinate dehydratase
- ADCK4
- FMR1 : fragile X messenger ribonucleoprotein 1
- FOXF2
- Rett Syndrome
- Angelman Syndrome
- DiGeorge Syndrome
- Noonan Syndrome
- Smith-Lemli-Opitz Syndrome
- Tuberous Sclerosis Complex (TSC)
- Williams Syndrome
- Wiedemann-Rautenstrauch Syndrome
- Vici Syndrome
- Smith-Magenis Syndrome
- Kabuki Syndrome
- Homocystinuria
- Fanconi Anemia
- Dravet Syndrome