✅ Inherited metabolic diseases
✅ Children with persistent vomiting, poor weight gain, or growth delay
✅ Unexplained seizures
✅ Intellectual disability or Autism Spectrum Disorders (especially those unresponsive to therapy)
✅ Chronic unexplained liver diseases
✅ Developmental regression in previously healthy children (loss of speech, walking, or neurological skills)
✅ Coarse facial features, short stature with progressive intellectual delay
✅ Periodic fever syndromes not related to rheumatologic diseases
✅ Any severe progressive disorders of organs or systems of unclear cause