Global Variome shared LOVD

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Phenotype #0000199448 Individual ID 00260915 Associated disease DD Phenotype details developmental delay, microcephaly, epilepsy, cMRI: simplified gyral pattern, delay of myelinisation; 48m-assisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; strabism; no nystagmus; no abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; 21m-onset epileptic seizures; seizures; focal, generalised tonic-clonic seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; 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 51m 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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