|
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 |
