Global Variome shared LOVD

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Phenotype #0000331288 Individual ID 00441899 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite XLID111 Phenotype details see paper; ..., OFC +1.5 SDS; height +1 SDS; no feeding difficulties; kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; unsteady gait; autism spectrum disorder, anxiety, hyperactivity Inheritance Familial, X-linked Age/Examination 12y (12 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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