Global Variome shared LOVD

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Phenotype #0000257265 Individual ID 00361872 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intellectual disability, analphabet; no motor delay; no speech delay; no dysarthria; no epilepsy; generalized hypotonia; no spasticity; no ataxia; no regression; bird-like appearance; no dental/oral abnormalities; no drooling, dysphagia; no skeletal abnormalities, no limb abnormalities; normal skin, normal hair, normal nails Inheritance Unknown Age/Examination 33y (33 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 2021-04-11 17:48:18 +02:00 (CEST) Date last edited N/A

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