Global Variome shared LOVD

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Phenotype #0000327894 Individual ID 00437990 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details no developmental delay; no intellectual disability; no speech delay; no behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain aormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms Inheritance Unknown Age/Examination 31y (31 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 2023-10-19 12:03:34 +02:00 (CEST) Date last edited N/A

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