Phenotype #0000187448

Individual ID 00248457
Associated disease ?
Diagnosis/Initial congenital contracture syndrome
Diagnosis/Definite -
Phenotype details see paper; …, extension contractures of knees; camptodactyly, scoliosis, ophthalmoplegia, astigmatism; unremarkable pregnancy, born at term, normal fetal movement, birth weight 3.0 kg; fibrosis affected muscle
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset <11y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2019-07-23 23:23:22 +02:00 (CEST)
Date last edited N/A

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