Global Variome shared LOVD

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

Phenotype #0000357475 Individual ID 00472641 Associated disease CDG2J Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite CDG2J Phenotype details severe intellectual disability, spasticity, absent speech, microcephaly, developmental abnormalities, neuromotor delay Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lucia Micale Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lucia Micale Date created 2026-02-25 13:24:47 +01:00 (CET) Date last edited 2026-02-25 17:11:09 +01:00 (CET)

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