Global Variome shared LOVD

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Phenotype #0000308350 Individual ID 00416630 Associated disease MCLMR Inheritance Isolated (sporadic) Phenotype details best corrected visual acuity right, left eye: 1.22,0.9; refraction right, left eye: +1.75/ -3.75 x 180 deg, +2.25/ -4 9 x 180 deg; ocular fundus: diffuse retinal atrophy, both eyes macular retinal pigment epithelium pigmentary changes, pale optic discs; electrodiagnostic testing: generalized rod and cone system dysfunction both eyes. pattern electroretinogram evidence of macular dysfunction both ey Diagnosis/Initial - Age/Examination 10y (10 years) Diagnosis/Definite microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) 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 2022-09-07 14:46:17 +02:00 (CEST) Date last edited N/A

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