Global Variome shared LOVD

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Phenotype #0000050907 Individual ID 00064749 Associated disease DD Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), intellectual disability (HP:0001249), generalized tonic-clonic seizures (HP:0002069), absence seizures (HP:0002121), status epilepticus (HP:0002133), febrile seizures (HP:0002373), atonic seizures (HP:0010819), focal seizures (HP:0007359), short philtrum (HP:0000322), tapered fingers (HP:0001182), joint hypermobility (HP:0001382), aggressive behaviour (HP:0000718), eeg with temporal sharp and slow waves (HP:0011289), hyperreflexia (HP:0001347), prominent upper incisors (HP:0000675), narrow hands (HP:0004283) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 17y (17 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 21:50:20 +02:00 (CEST) Date last edited N/A

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