Global Variome shared LOVD

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

Phenotype #0000083723 Individual ID 00072251 Associated disease EIEE Phenotype details regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), cogwheel rigidity (HP:0002396), juvenile spasms evolved to LennoxGastaut syndrome (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?), horizontal nystagmus (HP:0000666), vertical nystagmus (HP:0010544) 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 22:17:15 +02:00 (CEST) Date last edited N/A

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