Global Variome shared LOVD

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

Phenotype #0000127232 Individual ID 00154496 Associated disease RTS2 Inheritance Unknown Diagnosis/Initial RTS Age/Examination - Diagnosis/Definite RTS Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset - Phenotype details poikiloderma on face, limbs and buttocks; hyperkeratosis on palms, soles and knukles; onychodystophy; sparse eyebrows; keratoconus; low bone density. Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2018-03-01 10:28:24 +01:00 (CET) Date last edited 2018-03-01 11:04:49 +01:00 (CET)

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