Global Variome shared LOVD

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Phenotype #0000270217 Individual ID 00375007 Associated disease ? Diagnosis/Initial cardiofaciocutaneous syndrome Diagnosis/Definite - Phenotype details birth 30w due to non-immune hydrops fetalis and HELLP in mother; retinopathy and cataracts; OFC <-2.5 SD; height 0 SD; developmental delay; almost no speech; autism, behavioral problems, sleep issues; ; no cardiac anomalies Inheritance Isolated (sporadic) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-28 11:34:47 +02:00 (CEST) Date last edited N/A

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