Global Variome shared LOVD

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Phenotype #0000327849 Individual ID 00437942 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2023-10-17 16:39:44 +02:00 (CEST) Date last edited N/A

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