Global Variome shared LOVD

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Phenotype #0000327890 Individual ID 00437986 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details developmental delay; no intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; no ectodermal symptoms; high palate, atrial septal defect, hyperextensible joints, hypopigmented skin lesions, frequent falling Inheritance Isolated (sporadic) Age/Examination 6y8m (6 years, 8 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 11:44:38 +02:00 (CEST) Date last edited N/A

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