Phenotype #0000127237

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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)