Global Variome shared LOVD

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

Phenotype #0000135696 Individual ID 00168071 Associated disease SMA2 Phenotype details 5.5y-respiratory support and gastrostomy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y11m Phenotype/Onset proximal spinal muscular atrophy (HP:0006959) Protein - Owner name Kyriaki Kekou Database submission license No license selected Created by Johan den Dunnen Date created 2018-07-24 09:44:17 +02:00 (CEST) Date last edited 2018-07-24 09:44:33 +02:00 (CEST)

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