Global Variome shared LOVD

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Phenotype #0000232814 Individual ID 00306993 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Multifocal epileptiform discharges (HP:0010841); Abnormality of muscle physiology (HP:0011804); Seizures (HP:0001250); Muscular hypotonia (HP:0001252); Spasticity (HP:0001257); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental abnormality (HP:0012759); Hypertonia (HP:0001276); Dystonia (HP:0001332); Generalized myoclonic seizures (HP:0002123); EEG abnormality (HP:0002353); Abnormality of the musculature (HP:0003011); Muscular dystrophy (HP:0003560); Hearing impairment (HP:0000365); Abnormal muscle tone (HP:0003808) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-07-27 09:48:01 +02:00 (CEST) Date last edited 2020-08-04 21:42:21 +02:00 (CEST)

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