Global Variome shared LOVD

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

Phenotype #0000083726 Individual ID 00072247 Associated disease EIEE Phenotype details regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), spasticity (HP:0001257), impaired volitional movement (HP:?) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 01y10m 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 22:34:33 +02:00 (CEST) Date last edited N/A

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