Global Variome shared LOVD

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Phenotype #0000346366 Individual ID 00457916 Associated disease NDD Diagnosis/Initial dysphagia, failure to thrive, electrolyte abnormalities, cortical visual impairment, developmental delay Diagnosis/Definite SPDRS Phenotype details see paper; ..., birth normal growth parameters, poor growth early in life, global developmental delay, microcephaly, EEG abnormal, seizures, mild dyskinetic movements (at 4m), early childhood MRI brain normal, feeding difficulties, reflux, vomiting, constipation, scoliosis, contractures, hearing impairment, cortical visual impairment, exotropia, esotropia, optic nerve atrophy, dyspigmentation skin, irritability, poor sleep Inheritance Familial, X-linked Age/Examination 03y (3 years) Age/Diagnosis 00y07m 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 2024-11-21 10:51:52 +01:00 (CET) Date last edited N/A

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