Phenotype #0000351247

Individual ID 00465805
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite PDMCS
Phenotype details see paper; ..., severe joint malalignment elbows, hips, knees and feet, hypermobility, severe kyphoscoliosis, osteoporosis with multiple fractures in childhood, congenital diaphragmatic hernia, minor dental anomalies, digital malformations, characteristic facial features
Inheritance Familial, autosomal recessive
Age/Examination 22y (22 years)
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 2025-06-05 18:51:13 +02:00 (CEST)
Date last edited N/A

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