Global Variome shared LOVD

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Phenotype #0000306872 Individual ID 00415071 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound developmental delay, no speech, unable to sit; 6m-generalized tonic clonic seizures; MRI bilateral parietal pachygyria, periventricular heterotopia, ventriculomegaly, hyperintensity and paucity of the white matter; hypotonia, nystagmus; no microcephaly but low OFC; small for gestational age; congenital heart defect; no ophthalmologic features but poor fixation Inheritance Familial, autosomal dominant Age/Examination - 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 15:17:10 +02:00 (CEST)

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