Global Variome shared LOVD

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Phenotype #0000306869 Individual ID 00415068 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound developmental delay, no speech, 6y-sat independently; 4m-generalized tonic clonic, myoclonic seizures; MRI ventriculomegaly, cortical atrophy, demyelination of periventricular white matter, thin corpus callosum, cerebellar vermian hypoplasia; hypertonia of the limbs; microcephaly; short stature, low weight; no congenital heart defect; optic atrophy, followed light Inheritance Familial, autosomal dominant Age/Examination 06y (6 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 15:16:08 +02:00 (CEST)

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