Global Variome shared LOVD

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Phenotype #0000305171 Individual ID 00413190 Associated disease - Phenotype details cone-rod dystrophy with amelogenesis imperfecta; photophobia, pendular nystagmus; highly hypermetropic, low visual acuity - best corrected visual acuity, both eyes: 20/320); fundus: optic disk pallor, narrow vessels, macular atrophy with pigment mottling, and peripheral deep white dot deposits mainly in the lower and nasal retina; full-field - nonrecordable; scotopic conditions, b-wave amplitudes severely reduced, slightly delayed culmination time of the b-wave; teeth: decidual and permanent teeth affected, dysplastic and yellow and brown in color, showing no enamel layer and numerous carious lesions; neurological and cognitive examination: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Jalili Syndrome Age/Examination - Age/Diagnosis - Age/Onset 7y Phenotype/Onset poor vision Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-11 19:52:20 +02:00 (CEST) Date last edited N/A

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