Global Variome shared LOVD

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Phenotype #0000238669 Individual ID 00314911 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Coarse facial features, hirsutism, developmental delay, nearly absent fifth fingernails and toenails, large for gestational age, polyhydramnios, low Apgar scores, complications in the newborn period, and complications at 6 weeks of life resulting in apnea, stroke and seizures. Inheritance Isolated (sporadic) Age/Examination 1y6m (1 year, 6 months) Age/Diagnosis - Age/Onset 1d 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 2020-10-20 15:09:17 +02:00 (CEST) Date last edited N/A

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