Global Variome shared LOVD

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Phenotype #0000327888 Individual ID 00437984 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms Inheritance Isolated (sporadic) Age/Examination 2y2m (2 years, 2 months) 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 11:35:55 +02:00 (CEST) Date last edited N/A

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