Global Variome shared LOVD

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

Phenotype #0000230315 Individual ID 00303231 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details erratic ocular movement; photophobia; no night blindness; refractive error (RE) +2.25, refractive error (LE) 3; temporal optic disc pallor; no peripheral pigmentary migration; neurodevelopmental delay, general movement disorganization, ataxia manifestations, poor language; MRI brain dysmorphic corpus callosum; hyperglycemia: 1.33 g/L Inheritance Familial, autosomal recessive Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - 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 2020-06-08 17:02:49 +02:00 (CEST) Date last edited N/A

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