Global Variome shared LOVD

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Phenotype #0000308346 Individual ID 00416626 Associated disease MCLMR Inheritance Isolated (sporadic) Phenotype details best corrected visual acuity right, left eye: 0.12,0.2; refraction right, left eye: +2/ -3 x 165 deg, +3.75/ -3.25 x 10 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigmentary changes; electrodiagnostic testing: generalized loss of rod function with evidence of inner retinal cone on-system involvement both eyes. pattern electroretinogram evidence of macular dysfunction, worse on the right 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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