Global Variome shared LOVD

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

Phenotype #0000144954 Individual ID 00184824 Associated disease CCDS2;GAMTD Phenotype details - Diagnosis/Initial GAMT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite CCDS-2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Gajja Salomons Database submission license No license selected Created by Gajja Salomons Date created 2016-05-02 14:33:34 +02:00 (CEST) Date last edited N/A

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