Phenotype #0000045151

Individual ID 00058556
Associated disease PYKNODYSOSTOSIS
Phenotype details osteosclerosis, short stature, acro-osteolysis distal phalanges, bone fragility, clavicular dysplasia, skul deformities with delayed suture closure
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
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 2016-01-31 02:09:56 +01:00 (CET)
Date last edited N/A

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