Phenotype #0000351308

Individual ID 00465859
Associated disease ?
Diagnosis/Initial chondrodysplasia, multiple dislocations
Diagnosis/Definite -
Phenotype details see paper; ..., intrauterine growth retadation; 3y-short stature (-3 SD); advanced (slightly) bone age; joint dislocations hips; hands hyperphalangism, right thumb duplication, first metacarpal hypoplasia, default of ossification of digits 1-4; Swedish key appearance; ventricular septum defect, minor labyrinthic malformation; flat face; no 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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