Phenotype #0000199691

Individual ID 00261185
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, microphthalmia, strabismus; poikiloderma; blistering; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges, dysplastic aspect phalanges, large metaphyses long bones, genu varum; intellectual disability
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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