Phenotype #0000186763

Individual ID 00247538
Associated disease KNDLRS
Phenotype details childhood atrophic and fragile hypo‐ and hyperpigmented skin, brachydactyly, syndactyly, nail dystrophy, dental caries; PatIII4 37y-invasive transitional cell carcinoma bladder
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 37y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license No license selected
Created by Cristina Has
Date created 2015-01-28 18:05:34 +01:00 (CET)
Date last edited 2020-08-03 14:23:02 +02:00 (CEST)

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