Phenotype #0000351299

Individual ID 00465850
Associated disease ?
Diagnosis/Initial Desbuquois dysplasia
Diagnosis/Definite DBQD2
Phenotype details see paper; ..., intrauterine growth retadation; short stature (-6.5 SD); advanced bone age; joint dislocations hips, right knee; hands short phalanges with short first metacarpal; Swedish key appearance, double proximal femoral epiphyses, tarsal extra ossification; respiratory distress initially; prominent eyes; intellectual disability
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 14:19:00 +02:00 (CEST)
Date last edited N/A

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