Global Variome shared LOVD

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Phenotype #0000304386 Individual ID 00412381 Associated disease ? Diagnosis/Initial RETT-like syndrome Diagnosis/Definite - Phenotype details see paper; ..., no microcephaly; no short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; intractable tonic seizures; hypotonia; Rett-like features (repetitive hand movements), decreased limb and hand movement during early adolescence; cortical visual impairment; normal hearing; midface retrusion, a flat nasal bridge, telecanthus (increased inner eyelids distance), upturned upper lip, low-set ear; dysphagia, G-tube; no autism spectrum disorder, inappropriate laughter, self-stimulatory behavior; sleep pattern impairment; scoliosis, decreased since middle childhood; MRI brain cerebral, cerebellar atrophy, thin corpus callosum; Early childhood: frequent high-voltage slow wave bursts in the bilateral central regions awake, early adolescence: independent spikes in the bilateral frontal region during sleep Inheritance Isolated (sporadic) Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-06-27 21:50:18 +02:00 (CEST) Date last edited N/A

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