Global Variome shared LOVD

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Phenotype #0000234840 Individual ID 00309520 Associated disease ? Diagnosis/Initial intellectual disability, retinitis pigmentosa Diagnosis/Definite IDDRP Phenotype details 15y: best corrected visual acuity right/left eye: not available; full field electroretinography, light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; ophthalmoscopic findings: peripapillary atrophy, attenuated retinal blood vessels, bone-spicule pigmentation; extra-ocular findings: intellectual disability Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI anna_tracewska Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-28 14:59:51 +02:00 (CEST) Date last edited 2022-07-01 20:11:14 +02:00 (CEST)

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