Phenotype #0000302499
| Individual ID |
00410395 |
| Associated disease |
- |
| Phenotype details |
age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 96; verbal learning trials: 51 (50th); verbal learning delay: 13 (75th); verbal recall immediate: 43 (90th); verbal recall %: 102 (90th); fluency phonemic 's': 16; fluency animals: 26; Hayling's total score: 13; cognitive estimates: 8; extraocular medical history: microscopic haematuria, RI, MC; magnetic resonance imaging findings: empty sella turcica; blood/vasculature tests: percentage of flow-mediated dilatation: 4.06; flow-mediated dilatation/glyceryl trinitrate: 0.98; average intima-media thickness (mm): 0.52; angiopoetin (pg/ml): 1030; vascular endothelial growth factor (pg/ml): 643.5; circulating endothelial cell (ml blood): 56; CD 133+: 0; CD 34+: 0.2; CD 144+:1.34; KDR/CD34+: 0.02; CD144/CD34+: 0.08; co |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr |
| Age/Examination |
44y (44 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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