Global Variome shared LOVD

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Phenotype #0000305213 Individual ID 00413232 Associated disease - Phenotype details nystagmus; photophobia; best corrected visual acuity at presentation right; left eye: 20/98, 20/98, at follow-up visit: 20/200, 20/252; retina: normal, optic discs appeared slightly pale; electrophysiological assessment (limited by patient cooperation): no consistent retinal responses evident for either eye to mixed rod-cone stimuli; pattern reversal visual evoked potentials: not evident Diagnosis/Initial Leber congenital amaurosis Inheritance Familial, autosomal recessive Diagnosis/Definite Jalili Syndrome Age/Examination 2y6m (2 years, 6 months) 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 2022-07-12 17:17:28 +02:00 (CEST) Date last edited N/A

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