Global Variome shared LOVD

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Phenotype #0000051230 Individual ID 00065125 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750) Age/Examination - Age/Diagnosis - Age/Onset 00y04m Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-19 12:59:27 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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