Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000083728 Individual ID 00072249 Associated disease EIEE Phenotype details no regression (-HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), hemiclonic seizures (HP:0006813), no neuromotor impairment (-HP:?) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 02y Phenotype/Onset - Protein - Intellectual_dis - Owner name Jamie Zeegers Database submission license No license selected Created by Johan den Dunnen Date created 2017-06-24 22:40:27 +02:00 (CEST) Date last edited N/A

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