Global Variome shared LOVD

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

Phenotype #0000036651 Individual ID 00049869 Associated disease RTS2 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 01y06m (1 year, 6 months) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details poikiloderma, erythema, telangiectatic lesions, pachyonychia, delayed dentition, hypoplastic teeth, saddle nose, joint pain, slow weight gain, impaired neurocognitive development Protein - Owner name Sabina Gallati, Prof. Database submission license No license selected Created by Sabina Gallati, Prof. Date created 2015-09-13 17:29:40 +02:00 (CEST) Date last edited 2016-01-26 02:58:19 +01:00 (CET)

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