Global Variome shared LOVD

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Phenotype #0000331286 Individual ID 00441897 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite XLID111 Phenotype details see paper; ..., OFC <−2 SDS; height -2.5 SDS; feeding difficulties, gastroesophageal reflux; kyphoscoliosis; developmental delay; no speech; severe intellectual disability; 11m-seizures, generalized seizures; diplegic cerebral palsy; unsteady gait, walks with support; autism spectrum disorder, anxiety, mutism, aggressiveness; MRI brain thin corpus callosum, white matter diffuse reduction, and leukomalacia 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 2023-11-14 19:43:56 +01:00 (CET) Date last edited N/A

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