Global Variome shared LOVD

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Phenotype #0000318750 Individual ID 00427736 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., intellectual disability; mother has intellectual disability and epilepsy, 3 maternal uncles and one maternal cousin with epilepsy; normal hearing; normal vision; delayed speech, expressive language delay; 6y-opposition defiant disorder; 6y-onset seizures, 6y-absence seizures, subsequently focal seizures, occasionally focal secondarily generalised seizures; EEG 2 episodes of spike-wave discharges associated with blinking, suggestive of a seizure, generalized nonspecific cerebral dysfunction; weight 50th-75th centile; OFC 75th centile; no dysmorphic feturres; no gastrointestinal symptoms; varus deformity of feed Inheritance Unknown Age/Examination 27y (27 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 2022-12-12 19:44:10 +01:00 (CET) Date last edited N/A

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