Global Variome shared LOVD

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Phenotype #0000199449 Individual ID 00260916 Associated disease DD Phenotype details developmental delay, microcephaly, hypotonia, epilepsy; 24m-assisted sitting; not walking; no functional hand use; 21m-started expressive speech, 4 words; no stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; no social interaction; no eye contact; unexplained episodes of crying; 24m-onset epileptic seizures; seizures; infantile spasms, generalized tonic seizures, generalized tonic-clonic activity, febrile seizures; drug resistant antiepileptic treatment response; G-Tube feeding; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; no cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 33m 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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