Global Variome shared LOVD

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Phenotype #0000199460 Individual ID 00260927 Associated disease DD Phenotype details developmental delay, regression, epilepsy; 9m-unassisted sitting; 42m-walking; walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; abnormal sleep patterns; good social interaction; no eye contact; no unexplained episodes of crying; 72m-onset epileptic seizures; seizures; tonic-myoclonic, tonic-clonic seizures; low antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 93m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-08-09 15:48:35 +02:00 (CEST) Date last edited N/A

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