Global Variome shared LOVD

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Phenotype #0000230412 Individual ID 00303335 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound intellectual disability; developmental delay; motor delay, not able to sit; speech delay, no speech; 7m-epilepsy, epileptic encephalopathy; EEG abnormal; hypotonia; spasticity congenital; ataxia, not able to sit; MRI brain white matter hyperintensities; no regression, but almost no progression; facial dysmorphisms; amelogenesis imperfecta suggestive of Kohlschutter Tonz syndrome, 3-4y-1st tooth, delayed eruption, yellow teeth; dry skin; no neoplasms Inheritance Isolated (sporadic) Age/Examination 19y (19 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 2020-06-10 17:04:23 +02:00 (CEST) Date last edited 2021-04-11 14:24:35 +02:00 (CEST)

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