Disease List
- Lactase deficiency, congenital
- Langer-Saldino type - See Achondrogenesis
- LCHADD - See Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
- Leber hereditary optic neuropathy
- Left ventricular noncompaction
- Leopard syndrome 1
- Lesch-nyhan syndrome
- Levy-Shanske syndrome - See 15q26 overgrowth syndrome
- LGMD - See Limb-girdle muscular dystrophy
- Li-fraumeni syndrome
- Limb-girdle muscular dystrophy
- Lipoid congenital adrenal hyperplasia
- LIS1-associated lissencephaly - See Miller-Dieker lissencephaly syndrome
- Loeys-Dietz syndrome
- Long QT syndrome
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
- Lowe oculocerebrorenal syndrome
- Lundberg syndrome
- Lynch syndrome
- Lysosomal acid lipase deficiency
