Global Variome shared LOVD

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Phenotype #0000050911 Individual ID 00064753 Associated disease DD Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), strabismus (HP:0000486), nystagmus (HP:0000639), inability to walk (HP:0002540), eeg with generalized epileptiform discharges (HP:0011198), tonic seizures (HP:0010818), macrocephaly (HP:0000256), dysphagia (HP:0002015), exotropia (HP:0000577), myoclonic seizures (HP:0002123), severe receptive language delay (HP:0011352) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 04y (4 years) 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 2016-05-10 22:06:36 +02:00 (CEST) Date last edited N/A

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