Global Variome shared LOVD

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Phenotype #0000327887 Individual ID 00437983 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain normal; no epilepsy; skeletal abnormalities; hearing loss; typical facial dysmorphic features; ectodermal symptoms; bifid uvula, submucous cleft palate and velopharyngeal insufficiency, sleep apnea, alternating exotropia Inheritance Unknown Age/Examination 07y (7 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 11:25:39 +02:00 (CEST) Date last edited N/A

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