Global Variome shared LOVD

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

Phenotype #0000301389 Individual ID 00409272 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., intellectual disability, epilepsy, microcephaly Inheritance Familial, autosomal recessive Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-05-06 11:17:52 +02:00 (CEST) Date last edited N/A

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