Phenotype #0000199694

Individual ID 00261188
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, lens detachment, photodysphoria, filamentary keratitis; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; warts; sparse hair or alopecia; absent eyebrows; absent eyelashes; small misshaped teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; right arm fixed flexion deformity
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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