Global Variome shared LOVD

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Phenotype #0000199693 Individual ID 00261187 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; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; sparse hair or alopecia; absent eyebrows; absent eyelashes; small pointy teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; arm fracture (never healed properly), punctate sclerotic foci multiple metaphyses; recurrent otis media; history of hearing loss improved after PET placement 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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