| Gene |
Chromosome |
Location |
Syndrome |
Category |
| L2HGDH | 14 | q21.3 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| LACC1 | 13 | q14.11 | Crohn Disease | Irritable Bowel Disorders | |
| LACC1 | 13 | q14.11 | Ulcerative colitis | Irritable Bowel Disorders | |
| LAMA3 | 18 | q11.2 | JEB Junctional epidermolysis bullosa | Alopecia | |
| LAMB3 | 1 | q32.2 | JEB Junctional epidermolysis bullosa | Alopecia | |
| LAMC2 | 1 | q25.3 | JEB Junctional epidermolysis bullosa | Alopecia | |
| LARGE1 | 22 | q12.3 | Walker-Warburg syndrome | Microphthalmia | |
| LARS2 | 3 | p21.31 | Perrault syndrome | Ataxia spectrum | |
| LCA5 | 6 | q14.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| LCT | 2 | q21 | Lactase deficiency | Lactose intolerance | |
| LDB3 | 10 | q23.2 | Myofibrillar myopathy | Muscular dystrophies | |
| LEFTY2 | 1 | q42.12 | heterotaxy syndrome | Heterotaxy | |
| LEMD2 | 6 | p21.31 | Cataract 46 juvenile-onset (CTRCT46) | Cataracts | |
| LEO1 | 15 | q21.2 | LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OF | Autism spectrum | |
| LETM1 | 4 | p16.3 | Wolf-Hirschhorn syndrome | Cleft lip / cleft palate | |
| LETM1 | 4 | p16.3 | Microcephaly - other | Microcephaly | |
| LGI1 | 10 | q23.33 | Autosomal dominant partial epilepsy with auditory features | Epilepsy and seizures | |
| LHX1 | 17 | q12 | 17q12 deletion syndrome | Diabetes | |
| LIG4 | 13 | q33.3 | Omenn syndrome | Alopecia | |
| LIM2 | 19 | q13.41 | Cataract 19 multiple types (CTRCT19) | Cataracts | |
| LIMK1 | 7 | q11.23 | Williams syndrome | Panic phobia anxiety | |
| LINC00937 | 12 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
| LIPC | 15 | q21.3 | Hepatic lipase deficiency | Hyperlipidemia | |
| LIPE | 19 | q13.2 | Familial partial lipodystrophy | Diabetes | |
| LIPH | 3 | q27.2 | Autosomal recessive hypotrichosis | Alopecia | |
| LIPN | 10 | q23.31 | Lamellar ichthyosis | Alopecia | |
| LIPT1 | 2 | q11.2 | Lipoyltransferase 1 deficiency | Bradycardia (<60 beats/minute) | |
| LIS1 | 17 | p13.3 | LISSENCEPHALY 1 | Autism spectrum | |
| LIS3 | 12 | q13.12 | LISSENCEPHALY 3 | Autism spectrum | |
| LIS8 | 12 | q21.32 | LISSENCEPHALY 8 | Autism spectrum | |
| LLS | 3 | p21.31 | LUSCAN-LUMISH SYNDROME | Autism spectrum | |
| LMBRD1 | 6 | q13 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
| LMBRD1 | 6 | q13 | Microcephaly - other | Microcephaly | |
| LMNA | 1 | q22 | Familial partial lipodystrophy | Diabetes | |
| LMNA | 1 | q22 | Emery-Dreifuss muscular dystrophy | Bradycardia (<60 beats/minute) | |
| LMNA | 1 | q22 | Hutchinson-Gilford progeria syndrome | Alopecia | |
| LMNB1 | 5 | q23.2 | Autosomal dominant leukodystrophy with autonomic disease | Ataxia spectrum | |
| LOC401074 | 3 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
| LOC642236 | 9 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
| LOC654342 | 2 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
| LONRF1 | 8 | p23.1 | Autism 18 (AUTS18) | Autism spectrum | |
| LPAR6 | 13 | q14.2 | Autosomal recessive hypotrichosis | Alopecia | |
| LPIN1 | 2 | p25.1 | Type 2 Diabetes | Diabetes | |
| LPL | 8 | p21.3 | Familial lipoprotein lipase deficiency | Hyperlipidemia | |
| LRAT | 4 | q32.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| LRMDA | 10 | q22.2 | Oculocutaneous albinism - autosomal recessive | Photophobia - sensitivity to light | |
| LRP2 | 2 | q31.1 | LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2 | Autism spectrum | |
| LRRK2 | 12 | q12 | Crohn Disease | Irritable Bowel Disorders | |
| LRRK2 | 12 | q12 | Parkinson disease - other |
Parkinsonism | |
| LTC4S | 5 | q35 | Leukotriene C4 synthase deficiency | Asthma | |
| LYST | 1 | q42.3 | Chediak-Higashi syndrome | Ataxia spectrum | |
| LZTR1 | 22 | q11.21 | Noonan syndrome | Autism spectrum | |