Global Variome shared LOVD

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

Phenotype #0000127237 Individual ID 00154501 Associated disease RTS2 Inheritance Isolated (sporadic) Diagnosis/Initial probable RTS Age/Examination - Diagnosis/Definite probable RTS Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Growth delay, plantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic anemia, hyperferritinemia, hypercholesterolemia, no poikiloderma but only white nodular lesions on the skin and swelling. She had alveolar rhabdomyosarcoma at 12y Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2018-03-01 12:30:20 +01:00 (CET) Date last edited 2018-03-02 10:31:30 +01:00 (CET)

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