Global Variome shared LOVD

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Phenotype #0000359691 Individual ID 00474898 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; hypotonia.; tonic upgaze eye movements in infancy; 4m-5m-myoclonic seizures, myoclonic-tonic seizures , EEG suggestive of developmental epileptic encephalopathy, multifocal/generalised discharges; MRI brain abnormal sulcal pattern suggestive of polymicrogyria; motor delay, speech delay; 20m-walk; 3y-minimal speech; no ophthalmologic problems; normal newborn hearing assessment, 1y-no hearing loss; 2m-tongue tie release; birth small patent foramen ovale, 2y-echo normal; recurrent upper respiratory tract infections; diarrhoea; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; mild kyphosis; hypotonia improved with time.; no immunological problems; eczema; narrow/sloping shoulders; epicanthic folds, depressed & broad nasal bridge, blue sclerae; normal hands, normal feet Inheritance Isolated (sporadic) Age/Examination 3y (3 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 2026-03-27 14:20:42 +01:00 (CET) Date last edited N/A

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