Global Variome shared LOVD

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Phenotype #0000306870 Individual ID 00415069 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound developmental delay, no speech, no head support; 2m-generalized tonic clonic, myoclonic seizures, excessive smacking movements; MRI asymmetrical ventriculomegaly, cortical atrophy, demyelination of periventricular white matter, thin corpus callosum, cerebellar vermian hypoplasia; intracranial calcifications; spasticity, rigidity, dystonic movement; microcephaly; short stature, low weight; congenital heart defect; optic atrophy, couldn't follow light Inheritance Familial, autosomal dominant Age/Examination 02y (2 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 2022-08-06 22:07:04 +02:00 (CEST) Date last edited 2022-08-08 15:16:35 +02:00 (CEST)

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