Disease List
- 15q24 deletion syndrome
- 15q26 overgrowth syndrome
- 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
- 2,4-dienoyl-coa reductase deficiency
- 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency
- 2-methylbutyrylglycinuria
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- 22q13.3 Deletion Syndrome - See Phelan-mcdermid syndrome
- 3-hydroxy-3-methylglutaric aciduria - See 3-hydroxy-3-methylglutaric aciduria (HMG)
- 3-hydroxy-3-methylglutaric aciduria (HMG)
- 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE - See HMG-CoA lyase deficiency
- 3-MCC - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- 3-MCC deficiency - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- 3-methylcrotonyl-coenzyme A carboxylase deficiency - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- 3-methylglutaconic aciduria, type III
- 3MCC - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
