GeneReviews
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- Kabuki Syndrome
- KANSL1-Related Intellectual Disability Syndrome
- KAT6B-Related Disorders
- KCNQ2-Related Disorders
- Kleefstra Syndrome
- Krabbe Disease
- L1 Syndrome
- Laing Distal Myopathy
- LAMA2-Related Muscular Dystrophy
- Leber Congenital Amaurosis
- Leber Hereditary Optic Neuropathy
- Legius Syndrome
- Lenz Microphthalmia Syndrome
- LEOPARD Syndrome
- Lesch-Nyhan Syndrome
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Li-Fraumeni Syndrome
- Limb-Girdle Muscular Dystrophy
- LIS1-Associated Lissencephaly/Subcortical Band Heterotopia
- LMNA-Related Dilated Cardiomyopathy
- Loeys-Dietz Syndrome
- Low Gamma-GT Familial Intrahepatic Cholestasis
- Lowe Syndrome
- LRRK2-Related Parkinson Disease
- Lymphedema-Distichiasis Syndrome
- Lymphoproliferative Disease, X-Linked
- Lynch Syndrome
- Lysinuric Protein Intolerance