Global Variome shared LOVD

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

Phenotype #0000144726 Individual ID 00184596 Associated disease CCDS3;GATMD Diagnosis/Initial GAMT deficiency Diagnosis/Definite CCDS-3 Phenotype details - Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Rahma MANI Database submission license No license selected Created by Gajja Salomons Date created 2016-08-30 16:36:34 +02:00 (CEST) Date last edited N/A

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