Global Variome shared LOVD

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Phenotype #0000333166 Individual ID 00443889 Associated disease NDD Diagnosis/Initial early-infantile onset epilepsy, developmental delay Diagnosis/Definite DEE89 Phenotype details see paper; ..., severe delay in all milestones, bed ridden; severe intellectual disability; normal vision; moderate hearing impairment; dysmorphic facial features; cleft palate (surgical correction); congenital hip dislocation and malformation; severe hypotonia, hyporeflexia, dysphagia; 6m-onset epilepsy; bilateral tonic clonic seizures; 4y-seizures refractory; EEG onset generalized epileptogenic activity; 1y-cardiovascular MRI moderate global atrophy; intermittent NG tube dependence Inheritance Familial, autosomal recessive Age/Examination 4y (4 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 2023-12-05 15:52:20 +01:00 (CET) Date last edited N/A

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