Global Variome shared LOVD

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Phenotype #0000333150 Individual ID 00443873 Associated disease DEE Diagnosis/Initial neonatal developmental and epileptic encephalopathy Diagnosis/Definite DEE89 Phenotype details see paper; ..., 2y-deceased; 14d-epileptic spasms, ‘eye twitches’; 9m-seizure-free; EEG at onset suppression-burst pattern; spasticity, scoliosis; profound intellectual disability; pes equinovarus; omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain mild-to-moderate cerebral and cerebellar (progressive) atrophy L > R, hypoplastic CC (1m and 2y), cervical notch Inheritance Familial, autosomal recessive Age/Examination 2y (2 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 10:17:31 +01:00 (CET) Date last edited N/A

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