Phenotype #0000351292

Individual ID 00318168
Associated disease SEMDJL1
Phenotype details see paper; ..., no intrauterine growth retadation; 4y-short stature (-2.5 SD); normal bone age; joint dislocations hips; hands proximal interphalangeal contractures; Swedish key appearance, progressive kyphoscoliosis, talipes equinovarus; ; malar hypoplasia, depressed nasal bridge, prominent eyes, microstomia; no intellectual disability
Diagnosis/Initial chondrodysplasia, multiple dislocations
Inheritance Familial, autosomal recessive
Diagnosis/Definite SEMDJL1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 14:05:52 +02:00 (CEST)
Date last edited N/A

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