Global Variome shared LOVD

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Phenotype #0000199690 Individual ID 00261184 Associated disease RTS2 Inheritance Familial, autosomal recessive Diagnosis/Initial Rothmund-Thomson syndrome Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details bilateral juvenile cataracts, astigmatism; poikiloderma; blistering; photosensitivity; sparse hair or alopecia; absent eyebrows; hypogonadism; undescended testes, micropenis; short stature; growth hormone therapy; mild developmental delay; recurrent otis media; GI disturbance, adenoidal hypertrophy Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-08-11 13:19:15 +02:00 (CEST) Date last edited 2019-08-12 20:40:22 +02:00 (CEST)

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