Global Variome shared LOVD

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Phenotype #0000333156 Individual ID 00443879 Associated disease DEE Diagnosis/Initial West syndrome Diagnosis/Definite DEE89 Phenotype details see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus Inheritance Familial, autosomal recessive Age/Examination 16m 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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