Global Variome shared LOVD

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

Phenotype #0000227534 Individual ID 00300232 Associated disease NLS2 Phenotype details HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0000316, HP:0000520, HP:0007651, HP:0000252, HP:0001339, HP:00012714, HP:0002119, HP:0001331, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0010305, HP:0008064, HP:0001629, HP:0012210, HP:0003241, HP:0000054, HP:0000969 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein p.(Ala99Val) Owner name Fatima Abdelfattah Database submission license No license selected Created by Fatima Abdelfattah Date created 2020-04-24 14:09:14 +02:00 (CEST) Date last edited 2020-04-26 11:03:57 +02:00 (CEST)

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