Before revision: trisomy 21 — most common Ehlers–Danlos syndrome Familial dysautonomia (Riley–Day syndrome) FG syndrome Fragile X syndrome Griscelli syndrome Type 1 (Elejalde syndrome) Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency Krabbe disease Leigh's disease Lesch–Nyhan syndrome Marfan's syndrome Menkes syndrome Methylmalonic acidemia Myotonic dystrophy Niemann–Pick disease Nonketotic hyperglycinemia (NKH) or Glycine encephalopathy (GCE) Noonan syndrome Neurofibromatosis Patau syndrome a.k.a.
After revision: GLUT1 deficiency syndrometrisomy 21 — most common Ehlers–Danlos syndrome Familial dysautonomia (Riley–Day syndrome) FG syndrome Fragile X syndrome Griscelli syndrome Type 1 (Elejalde syndrome) Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency Krabbe disease Leigh's disease Lesch–Nyhan syndrome Marfan's syndrome Menkes syndrome Methylmalonic acidemia Myotonic dystrophy Niemann–Pick disease Nonketotic hyperglycinemia (NKH) or Glycine encephalopathy (GCE) Noonan syndrome Neurofibromatosis Patau syndrome a.k.a.