Phenotype #0000351283

Individual ID 00465836
Associated disease ?
Diagnosis/Initial joint laxity
Diagnosis/Definite GO
Phenotype details see paper; ..., Skin and joint laxity, congenital dislocation hip, thin bones, fractures, osteopenia, osteoporosis, Wormian bones, low vitamin D, bronchial asthma, dysmorphic features (progeroid faces with maxillary hypoplasia, mandibular prognathism)
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
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 2025-06-07 12:17:17 +02:00 (CEST)
Date last edited N/A

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