Global Variome shared LOVD

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Phenotype #0000305164 Individual ID 00413183 Associated disease - Phenotype details by 24y virtually no enamel remains; ocular findings: early and progressive loss of visual acuity with worsening central vision followed by failure of peripheral vision; marked photophobia; marked impairment of color vision apparent early in life; electroretinography: early loss of cone and rod function, with cones being more severely affected Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Jalili Syndrome Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-11 18:32:10 +02:00 (CEST) Date last edited N/A

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