Global Variome shared LOVD

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Phenotype #0000050913 Individual ID 00064755 Associated disease DD Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), limb hypertonia (HP:0002509), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), focal seizures with impairment of awareness (HP:0002384), dysphagia (HP:0002015), dystonia (HP:0001332), posteriorly rotated ears (HP:0000358), overfolded helices (HP:0000396), clenched hand position (HP:0001188), limited elbow extension (HP:0001377), sensorineural hearing loss (HP:0000407), neurogenic bladder (HP:0000011), eeg with occipital slowing (HP:0011210) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 06y (6 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 22:13:21 +02:00 (CEST) Date last edited N/A

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