Global Variome shared LOVD

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

Phenotype #0000036644 Individual ID 00049866 Associated disease RTS2 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 08y (8 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea Protein - Owner name Sabina Gallati, Prof. Database submission license No license selected Created by Sabina Gallati, Prof. Date created 2015-09-13 16:09:40 +02:00 (CEST) Date last edited 2016-01-26 02:58:19 +01:00 (CET)

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