Global Variome shared LOVD

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

Phenotype #0000051210 Individual ID 00065104 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342), motor delay (HP:0001270); no speech delay (-HP:0000750) Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-17 15:18:16 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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