Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
lattice corneal dystrophy type I

Also known as: Biber-Haab-Dimmer dystrophy, CDL1, LCD, LCD1, LCDI, Lcd1, classic lattice corneal dystrophy, corneal dystrophy, lattice type 1, corneal dystrophy, lattice type I, lattice corneal dystrophy type 1, lattice corneal dystrophy, type 1

Laubry-Pezzi syndrome

Also known as: VSD with aortic insufficiency, ventricular septal defect with aortic insufficiency

laurin-Sandrow syndrome

Also known as: LSS, Sandrow syndrome, fibula and ulna, Duplication of, with absence of tibia and radius, fibula ulna duplication tibia radius absence, laurin Sandrow syndrome, laurin-Sandrow syndrome, laurin-Sandrow syndrome, segmental, mirror hands and feet with nasal defects, mirror hands and feets-nasal defects syndrome, mirror-Image polydactyly, tetramelic mirror-Image polydactyly

Leber congenital amaurosis 1

Also known as: CRB, GUCY2D Leber congenital amaurosis, LCA, LCA1, Leber congenital amaurosis 1, Leber congenital amaurosis caused by mutation in GUCY2D, Leber congenital amaurosis type 1, amaurosis congenita of Leber 1, amaurosis congenita of Leber I, amaurosis congenita of Leber, type 1, retinal blindness, congenital

Leber congenital amaurosis 10

Also known as: CEP290 Leber congenital amaurosis, LCA10, Leber congenital amaurosis 10, Leber congenital amaurosis caused by mutation in CEP290, Leber congenital amaurosis type 10, amaurosis congenita of Leber, type 10

Leber congenital amaurosis 11

Also known as: IMPDH1 Leber congenital amaurosis, LCA11, Leber congenital amaurosis 11, Leber congenital amaurosis caused by mutation in IMPDH1, Leber congenital amaurosis type 11, amaurosis congenita of Leber, type 11

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