Global Variome shared LOVD

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Phenotype #0000257142 Individual ID 00361751 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intellectual disability; speech 4 words, 4y-first words; motor development delay; muscular hypotonia; 6y-walk; ataxic; no autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI normal Inheritance Isolated (sporadic) Age/Examination 13y (13 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 2021-04-09 09:19:14 +02:00 (CEST) Date last edited N/A

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