Global Variome shared LOVD

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Phenotype #0000308351 Individual ID 00416631 Associated disease MCLMR Inheritance Isolated (sporadic) Phenotype details best corrected visual acuity right, left eye: 0.4,0.5; refraction right, left eye: +3.5/ -1.5 x 10 deg, +4/ -4/2.0 x 160 deg; ocular fundus: lacunae of chorioretinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: mild generalized rod and cone system dysfunction both eyes pattern electroretinogram evidence of macular dysfunction both eyes Diagnosis/Initial - Age/Examination 5y (5 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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