Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
Lactase deficiencyLCT2q21Lactose intolerance
Lactase deficiencyMCM62q21Lactose intolerance
LAEB lethal acantholytic epidermolysis bullosaDSP6p24.3Alopecia
Lafora progressive myoclonus epilepsyEPM2A6q24.3Epilepsy and seizures
Lafora progressive myoclonus epilepsyNHLRC16p22.3Epilepsy and seizures
Lamellar ichthyosisABCA122q35Alopecia
Lamellar ichthyosisCYP4F2219p13.12Alopecia
Lamellar ichthyosisLIPN10q23.31Alopecia
Lamellar ichthyosisNIPAL45q33.3Alopecia
Lamellar ichthyosisTGM114q12Alopecia
Langerhans cell histiocytosisBRAF7q34Diabetes
Langerhans cell histiocytosisMAP2K115q22.31Diabetes
Langerhans cell histiocytosisMAP3K15q11.2Diabetes
Lattice corneal dystrophy type ITGFBI5q31.1Photophobia - sensitivity to light
Lattice corneal dystrophy type IIGSN9q33Cerebral palsy
LCEB lethal congenital epidermolysis bullosaJUP17q21.2Alopecia
Leber congenital amaurosisAIPL117p13.2Photophobia - sensitivity to light
Leber congenital amaurosisCEP29012q21.32Photophobia - sensitivity to light
Leber congenital amaurosisCRB11q31.3Photophobia - sensitivity to light
Leber congenital amaurosisCRX19q13.33Photophobia - sensitivity to light
Leber congenital amaurosisGUCY2D17p13.1Photophobia - sensitivity to light
Leber congenital amaurosisIMPDH17q32.1Photophobia - sensitivity to light
Leber congenital amaurosisIQCB13q13.33Photophobia - sensitivity to light
Leber congenital amaurosisLCA56q14.1Photophobia - sensitivity to light
Leber congenital amaurosisLRAT4q32.1Photophobia - sensitivity to light
Leber congenital amaurosisNMNAT11p36.22Photophobia - sensitivity to light
Leber congenital amaurosisRD31q32.3Photophobia - sensitivity to light
Leber congenital amaurosisRDH1214q24.1Photophobia - sensitivity to light
Leber congenital amaurosisRPE651p31.3Photophobia - sensitivity to light
Leber congenital amaurosisRPGRIP114q11.2Photophobia - sensitivity to light
Leber congenital amaurosisSPATA714q31.3Photophobia - sensitivity to light
Leber congenital amaurosisTULP16p21.31Photophobia - sensitivity to light
Leigh syndromeMT-ATP608527-9207Microcephaly
Lens clouding / cornea cloudingEYA18q13.3Cataracts
LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OFLEO115q21.2Autism spectrum
LESCH-NYHAN SYNDROMERAPGEF42q31.1Autism spectrum
Lethal arthrogryposis with anterior horn cell diseaseERBB312q13Arthrogryposis spectrum
Lethal arthrogryposis with anterior horn cell diseaseGLE19q34.11Arthrogryposis spectrum
Lethal arthrogryposis with anterior horn cell diseasePIP5K1C19p13.3Arthrogryposis spectrum
Lethal congenital contracture syndrome 8 (LCCS8)ADCY612q13.12Arthrogryposis spectrum
Leukoencephalopathy with brainstem/spinal cord involvementDARS21q25.1Ataxia spectrum
Leukotriene C4 synthase deficiencyALOX5AP13q12Asthma
Leukotriene C4 synthase deficiencyLTC4S5q35Asthma
Lipoid proteinosisECM11q21.2Alopecia
Lipoyltransferase 1 deficiencyLIPT12q11.2Bradycardia (<60 beats/minute)
LISSENCEPHALY 1LIS117p13.3Autism spectrum
LISSENCEPHALY 3LIS312q13.12Autism spectrum
LISSENCEPHALY 8LIS812q21.32Autism spectrum
Lissencephaly with cerebellar hypoplasia (LCH)RELN7q22Autism spectrum
Loeys-Dietz syndromeSMAD315q22.33Asthma
Loeys-Dietz syndromeTGFB21q41Asthma
Loeys-Dietz syndromeTGFBR19q22Asthma
Loeys-Dietz syndromeTGFBR23p22Asthma
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHADHA2p23.3Reye`s Syndrome-like diseases
LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2LRP22q31.1Autism spectrum
LUBS X-LINKED MENTAL RETARDATION SYNDROMEMRXSL23q28Autism spectrum
Lujan SyndromeMED1223q13Autism spectrum
LUSCAN-LUMISH SYNDROMELLS3p21.31Autism spectrum
LYSINE-SPECIFIC DEMETHYLASE 5CKDM5C23p11.22Autism spectrum


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