Phenotype #0000351302

Individual ID 00465853
Associated disease ?
Diagnosis/Initial chondrodysplasia, multiple dislocations
Diagnosis/Definite -
Phenotype details see paper; ..., no intrauterine growth retadation; 23m-short stature (-1,5 SD); normal bone age; joint dislocations hips; hands long, tapering fingers; radiocubital synostosis, platyspondyly, endplate irregularities, lumbar scoliosis, swedish key appearance, bowing of long bones, osteopenia; bicuspid aortic valve, elastic skin, amelogenesis imperfecta; flat, triangular face, blue sclerae, downslanting palpebral fissures, microstomia, high palate, thin lips; 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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