T1D (3.6), gastrointestinal dysfunction (3.9), temporal lobe epilepsy (4.7), hypercholesterolemia (5.6), constipation (5.8), ocular myasthenia (5.8), onychodystrophy (5.8), precocious puberty (6.6), HT (9.7), iron-deficiency anemia (20), secondary amenorrhea (21), alopecia (21), homo MTHFR mutation c.677C>T (22.6) The gene discussed is MTHFR; the disease is Hypercholesterolemia.