Global Variome shared LOVD

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Phenotype #0000199459 Individual ID 00260926 Associated disease DD Phenotype details developmental delay, hypotonia, epilepsy, cMRI: delayed myelination; 24m-unassisted sitting; 72m-walking ; walking; functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; 5m-onset epileptic seizures; seizures; status epilepticus, febrile seizures; antiepileptic treatment response; no feeding difficulties; no gastroesophageal reflux; aspiration; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 85m 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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