Phenotype #0000061367

Individual ID 00081725
Associated disease stature, short
Phenotype details see paper; ..., postnatal short stature, skeletal anomalies thorax, minor congenital heart defect, camptodactyly, minor further anomalies
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen