Global Variome shared LOVD

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Phenotype #0000302502 Individual ID 00410398 Associated disease - Phenotype details age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 110; verbal learning trials: 56 (50th); verbal learning delay: 14 (75th); verbal recall immediate: 48 (90th); verbal recall %: 92 (50th); fluency phonemic 's': 24; fluency animals: 28; Hayling's total score: 17; cognitive estimates: 5; extraocular medical history: M; magnetic resonance imaging findings: normal; blood/vasculature tests: percentage of flow-mediated dilatation: ; circulating endothelial cell (ml blood): 16; CD 133+: 0.25; CD 34+: 0.17; CD 144+:; KDR/CD34+: 0.07; CD144/CD34+: 0.02; colon Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr Age/Examination 32y (32 years) 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 2022-05-25 13:24:38 +02:00 (CEST) Date last edited N/A

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