שכיחות מוטציות באוכלוסיה הישראלית בהתאם למחלה ולקבוצה אתנית

השכיחות חושבה על פי הסינון למחלה וקבוצה אתנית - מספר האללים לכל מוטציה חולק במספר האללים הכללי על פי הסינון

Prevalence of mutations in the Israeli population according to disease and ethnic group

Prevalence was calculated according to the screening for disease and ethnic group - the number of alleles for each mutation was divided by the total number of alleles according to the screening.

Phenotype Acronyme
Achromatopsia ACHM
Alstrom syndrome  
Aniridia  
Autosomal recessive spastic ataxia SACS
Bardet-Biedl syndrome BBS
Best  
Bietti crystalline dystrophy BCD
Blue-cone monochromacy BCM
Bradyopsia  
Choroideremia CHM
Cocayne syndrome  
Cone dystrophy with supernormal rod ERG CDSRR
Cone-rod dystrophy CRD
Cone-rod dystrophy and hearing loss CRD and hearing loss
Congenital stationary night blindness CSNB
Dannon Disease  
Enhanced S-cone syndrome ESCS
Familial exudative vitreoretinopathy FEVR
Foveal hypoplasia  
Fundus albipunctatus FA
Geograpical atropy GA
High myopia  
Hunter syndrome  
Joubert syndrome JBTS
Knobloch syndrome  
Leber congenital amaurosis LCA
Leber hereditary optic neuropathy LHON
Leukoenecephalopathy  
Maculopathy MD
Microphthalmia  
mitochondrial encephalomyopathy MELAS
Neuropathy, ataxia, and retinitis pigmentosa NARP
Ocular developmental  
Oguchi  
Poretti syndrome  
Refsume  
retinal detachment RD
Retinitis pigmentosa RP
Retinoschisis RS
Senior-Loken syndrome SLS
sorsby fundus dystrophy  
Spinocerebellar ataxia SCA
Stargardt disease STGD
Stickler syndrome  
Usher syndrome USH
Vici syndrome  
West syndrome  
Norrie disease