Global Variome shared LOVD

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Phenotype #0000199451 Individual ID 00260918 Associated disease DD Phenotype details developmental delay, microcephaly, hypotonia, cMRI: pachygyria; 24m-assisted sitting; 60m-walking; assisted walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; 55m-onset epileptic seizures; seizures; antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 8y9m (8 years, 9 months) 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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