Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000305181 Individual ID 00413200 Associated disease - Phenotype details cone-rod dystrophy with amelogenesis imperfecta; 2y: major complaints: photophobia and difficulties seeing in darkness; decidual and permanent teeth were yellow and brown, showing no enamel layer, with numerous carious consistent with a hypoplastic, hypomineralized AI; 6y: bilateral rapid nystagmus and low vision, full-field photoscopic electroretinogram: nonrecordable; scotopic conditions, electroretinogram responses: markedly reduced b-wave amplitudes; neurological and cognitive examination: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Jalili Syndrome Age/Examination - Age/Diagnosis - Age/Onset 2m Phenotype/Onset bilateral nystagmus Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-11 19:57:32 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.