Syndrome |
Gene |
Chromosome |
Location |
Category |
Lactase deficiency | LCT | 2 | q21 | Lactose intolerance | |
Lactase deficiency | MCM6 | 2 | q21 | Lactose intolerance | |
LAEB lethal acantholytic epidermolysis bullosa | DSP | 6 | p24.3 | Alopecia | |
Lafora progressive myoclonus epilepsy | EPM2A | 6 | q24.3 | Epilepsy and seizures | |
Lafora progressive myoclonus epilepsy | NHLRC1 | 6 | p22.3 | Epilepsy and seizures | |
Lamellar ichthyosis | ABCA12 | 2 | q35 | Alopecia | |
Lamellar ichthyosis | CYP4F22 | 19 | p13.12 | Alopecia | |
Lamellar ichthyosis | LIPN | 10 | q23.31 | Alopecia | |
Lamellar ichthyosis | NIPAL4 | 5 | q33.3 | Alopecia | |
Lamellar ichthyosis | TGM1 | 14 | q12 | Alopecia | |
Langerhans cell histiocytosis | BRAF | 7 | q34 | Diabetes | |
Langerhans cell histiocytosis | MAP2K1 | 15 | q22.31 | Diabetes | |
Langerhans cell histiocytosis | MAP3K1 | 5 | q11.2 | Diabetes | |
Lattice corneal dystrophy type I | TGFBI | 5 | q31.1 | Photophobia - sensitivity to light | |
Lattice corneal dystrophy type II | GSN | 9 | q33 | Cerebral palsy | |
LCEB lethal congenital epidermolysis bullosa | JUP | 17 | q21.2 | Alopecia | |
Leber congenital amaurosis | AIPL1 | 17 | p13.2 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | CEP290 | 12 | q21.32 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | CRB1 | 1 | q31.3 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | CRX | 19 | q13.33 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | GUCY2D | 17 | p13.1 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | IMPDH1 | 7 | q32.1 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | IQCB1 | 3 | q13.33 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | LCA5 | 6 | q14.1 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | LRAT | 4 | q32.1 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | NMNAT1 | 1 | p36.22 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | RD3 | 1 | q32.3 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | RDH12 | 14 | q24.1 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | RPE65 | 1 | p31.3 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | RPGRIP1 | 14 | q11.2 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | SPATA7 | 14 | q31.3 | Photophobia - sensitivity to light | |
Leber congenital amaurosis | TULP1 | 6 | p21.31 | Photophobia - sensitivity to light | |
Leigh syndrome | MT-ATP6 | 0 | 8527-9207 | Microcephaly | |
Lens clouding / cornea clouding | EYA1 | 8 | q13.3 | Cataracts | |
LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OF | LEO1 | 15 | q21.2 | Autism spectrum | |
LESCH-NYHAN SYNDROME | RAPGEF4 | 2 | q31.1 | Autism spectrum | |
Lethal arthrogryposis with anterior horn cell disease | ERBB3 | 12 | q13 | Arthrogryposis spectrum | |
Lethal arthrogryposis with anterior horn cell disease | GLE1 | 9 | q34.11 | Arthrogryposis spectrum | |
Lethal arthrogryposis with anterior horn cell disease | PIP5K1C | 19 | p13.3 | Arthrogryposis spectrum | |
Lethal congenital contracture syndrome 8 (LCCS8) | ADCY6 | 12 | q13.12 | Arthrogryposis spectrum | |
Leukoencephalopathy with brainstem/spinal cord involvement | DARS2 | 1 | q25.1 | Ataxia spectrum | |
Leukotriene C4 synthase deficiency | ALOX5AP | 13 | q12 | Asthma | |
Leukotriene C4 synthase deficiency | LTC4S | 5 | q35 | Asthma | |
Lipoid proteinosis | ECM1 | 1 | q21.2 | Alopecia | |
Lipoyltransferase 1 deficiency | LIPT1 | 2 | q11.2 | Bradycardia (<60 beats/minute) | |
LISSENCEPHALY 1 | LIS1 | 17 | p13.3 | Autism spectrum | |
LISSENCEPHALY 3 | LIS3 | 12 | q13.12 | Autism spectrum | |
LISSENCEPHALY 8 | LIS8 | 12 | q21.32 | Autism spectrum | |
Lissencephaly with cerebellar hypoplasia (LCH) | RELN | 7 | q22 | Autism spectrum | |
Loeys-Dietz syndrome | SMAD3 | 15 | q22.33 | Asthma | |
Loeys-Dietz syndrome | TGFB2 | 1 | q41 | Asthma | |
Loeys-Dietz syndrome | TGFBR1 | 9 | q22 | Asthma | |
Loeys-Dietz syndrome | TGFBR2 | 3 | p22 | Asthma | |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HADHA | 2 | p23.3 | Reye`s Syndrome-like diseases | |
LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2 | LRP2 | 2 | q31.1 | Autism spectrum | |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | MRXSL | 23 | q28 | Autism spectrum | |
Lujan Syndrome | MED12 | 23 | q13 | Autism spectrum | |
LUSCAN-LUMISH SYNDROME | LLS | 3 | p21.31 | Autism spectrum | |
LYSINE-SPECIFIC DEMETHYLASE 5C | KDM5C | 23 | p11.22 | Autism spectrum | |