Global Variome shared LOVD

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

Phenotype #0000227531 Individual ID 00300229 Associated disease PSATD Phenotype details HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0000232, HP:0009099, HP:0000278, HP:0000537, HP:0002057, HP:0000520, HP:0007651, HP:0000518, HP:0000252, HP:0002079, HP:0001371, HP:0001838, HP:0001188 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein p.(Ser43Arg) Owner name Fatima Abdelfattah Database submission license No license selected Created by Fatima Abdelfattah Date created 2020-04-24 12:07:02 +02:00 (CEST) Date last edited 2020-04-26 10:55:27 +02:00 (CEST)

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