Global Variome shared LOVD

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Phenotype #0000308348 Individual ID 00416628 Associated disease MCLMR Inheritance Isolated (sporadic) Phenotype details best corrected visual acuity right, left eye: 3,1.3; refraction right, left eye: +4.5/ -2.75 x 20 deg, +6.5/ -2 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, generalized retinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: generalized loss of rod function both eyes with asymmetrical cone on- pathway involvement, right > left eye Diagnosis/Initial - Age/Examination 4y (4 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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