Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Lacrimal Puncta Agenesis | IGSF3 | nasolacrimal duct obstruction, absence of lacrimal puncta | 149700 | autosomal recessive |
| LCAT Deficiency | LCAT | fish eye disease, FED, dyslipoproteinemic corneal dystrophy, alpha-lecithin:cholesterol acyltransferase deficiency, alpha-LCAT deficiency, Norum disease, LCAT deficiency | 245900, 136120 | autosomal recesssive |
| Leber Congenital Amaurosis | GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, PRPH2, CRB1, CEP290, IMPDH1, RD3, RDH12, LRAT, KCNJ13, NMNAT1, TULP1, GDF6 | LCA, CRB, congenital retinal blindness | 201000, 204100, 604232, 604393, 604537, 608553, 611755, 610612, 612712, 613341, 614186, 613843, 613826, 613829, 613835, 613837, 615360, 608133 | autosomal recessive |
| Leber Congenital Amaurosis with Early-Onset Deafness | TUBB4B | LCAEOD | 617879 | autosomal dominant |
| Leber Optic Atrophy | mtDNA | Leber hereditary optic neuropathy, LHON, Leber optic neuropathy | 535000 | mitochondrial |
| LEOPARD Syndrome | PTPN11 | lentiginosis, cardiomyopathic multiple lentigines syndrome | 151100 | autosomal dominant |
| Leukodystrophy, Hypomyelinating, 13 | C11ORF73 | HLD13 | 616881 | autosomal recessive |
| Leukodystrophy, Hypomyelinating, 15 | EPRS | HLD15 | 617951 | autosomal recessive |
| Leukoencephalopathy with Vanishing White Matter | EIF2B | Cree leukoencephalopathy, CLE, VWM, childhood ataxia with central nervous system hypomyelinization, CACH, vanishing white matter leukodystrophy, CACH/VWM, ovarioleukodystrophy | 603896 | autosomal recessive |
| Lowe Oculocerebrorenal Syndrome | OCRL | OCRL1, Lowe syndrome | 309000 | X-linked recessive |
| Lymphedema-Distichiasis Syndrome | FOXC2 | lymphedema with distichiasis, LDS | 153400 | autosomal dominant |