Global Variome shared LOVD

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

Phenotype #0000127235 Individual ID 00154499 Associated disease RTS2 Inheritance Familial, autosomal recessive Diagnosis/Initial RTS Age/Examination - Diagnosis/Definite RTS Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Poikiloderma, growth delay, plantar hyperkeratosis, photosensitivity, sparse hair, eyelashes, eyebrows, onychodystrophy, dental defects, osteosclerosis and cystic-like lesions, diarrhea, food intolerance in infancy. Her younger brother died for osteosarcoma at 18y. Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2018-03-01 11:40:02 +01:00 (CET) Date last edited 2018-03-02 10:22:52 +01:00 (CET)

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