Global Variome shared LOVD

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Phenotype #0000306866 Individual ID 00415065 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound developmental delay, no speech, unable to sit; 5m-epileptic spasms, focal, generalized tonic, status epilepticus seizures; MRI-5m ventriculomegaly, paucity of the white matter, bilateral parietal and occipital pachygyria; intracranial calcifications; spastic diplegia, hyperreflexia; microcephaly; small for gestational age, short stature; congenital heart defect; haemorrhagic retinitis, chronic retinal detachment, right eye exotropia w/ slow pupillary reaction Inheritance Familial, autosomal dominant Age/Examination 00y11m (11 months) 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 2022-08-06 22:07:04 +02:00 (CEST) Date last edited 2022-08-08 15:15:22 +02:00 (CEST)

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