Disorders: L

Disorders Alternate Names Genes Inheritance Pattern
Lacrimal Puncta Agenesis absence of lacrimal puncta, nasolacrimal duct obstruction IGSF3 autosomal recessive
LCAT Deficiency alpha-LCAT deficiency, alpha-lecithin:cholesterol acyltransferase deficiency, dyslipoproteinemic corneal dystrophy, FED, fish eye disease, LCAT deficiency, Norum disease LCAT autosomal recesssive
Leber Congenital Amaurosis congenital retinal blindness, CRB, LCA AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 autosomal recessive
Leber Congenital Amaurosis with Early-Onset Deafness LCAEOD TUBB4B autosomal dominant
Leber Optic Atrophy Leber hereditary optic neuropathy, Leber optic neuropathy, LHON mtDNA mitochondrial
LEOPARD Syndrome cardiomyopathic multiple lentigines syndrome, lentiginosis PTPN11 autosomal dominant
Leukodystrophy, Hypomyelinating, 13 HLD13 C11ORF73 autosomal recessive
Leukodystrophy, Hypomyelinating, 15 HLD15 EPRS autosomal recessive
Leukoencephalopathy with Vanishing White Matter CACH, CACH/VWM, childhood ataxia with central nervous system hypomyelinization, CLE, Cree leukoencephalopathy, ovarioleukodystrophy, vanishing white matter leukodystrophy, VWM EIF2B autosomal recessive
Lowe Oculocerebrorenal Syndrome Lowe syndrome, OCRL1 OCRL X-linked recessive
Lymphedema-Distichiasis Syndrome LDS, lymphedema with distichiasis FOXC2 autosomal dominant