Phenotype #0000227641

Individual ID 00300333
Associated disease OI
Phenotype details height 140cm (25th), weight 39kg (50th–75th); congenital joint contractures ; 3m-first fracture; 3 fractures; scoliosis ; clubfeet ; camptodactyly ; no pterygia ; white sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones
Diagnosis/Initial Bruck syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite BRKS2
Age/Examination 11y (11 years)
Age/Onset -
Phenotype/Onset -
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 2020-05-01 11:34:44 +02:00 (CEST)
Date last edited 2020-05-01 11:58:25 +02:00 (CEST)

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