Global Variome shared LOVD

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Phenotype #0000257151 Individual ID 00361760 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 5y-walk; ataxic; autistic features; no sleep disturbance; no seizures; no feeding difficulties; strabismus; joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, dilated ventricles Inheritance Isolated (sporadic) Age/Examination 6y5m (6 years, 5 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 2021-04-09 09:19:14 +02:00 (CEST) Date last edited N/A

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