Global Variome shared LOVD

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Phenotype #0000298237 Individual ID 00405740 Associated disease CMAVM Diagnosis/Initial capillary malformation Diagnosis/Definite CMAVM2 Phenotype details see paper; ..., capillary malformation, infancy on left cheek, round and oval vascular macules and patches, most lesions peripheral blanched halo located on head, neck, trunk, and extremities; no palpable thrill, no bruit; no temperature discordance with surrounding skin; no musculoskeletal overgrowth Inheritance Isolated (sporadic) Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-03-21 16:11:33 +01:00 (CET) Date last edited N/A

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