Global Variome shared LOVD

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Phenotype #0000238656 Individual ID 00314898 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Pierpont syndrome-like phenotype, absent speech, plantar fat pads, dysphagia, microcephaly, developmental delay, short stature, severe eczema. Inheritance Unknown Age/Examination 4y (4 years) 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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