Global Variome shared LOVD

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Phenotype #0000331289 Individual ID 00441900 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite XLID111 Phenotype details see paper; ..., height +0.5 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; mild intellectual disability; 8y-seizures, focal seizures; no spasticity, no dystonia; steady gait; anxiety, attention-deficit hyperactivity disorder, very sensitive, easily frustrated; MRI brain unspecific minor white substance punctate changes on the right side around the trigonum Inheritance Familial, X-linked Age/Examination 11y (11 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 2023-11-14 19:43:56 +01:00 (CET) Date last edited N/A

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