Phenotype #0000356943

Individual ID 00472135
Associated disease OI
Phenotype details see paper; ..., congenital osteogenesis imperfecta (prenatal fractures); adult >50 fractures, osteopenia or osteoporosis, short stature, deformities upper/lower extremities, pectus deformity, wheelchair-bound, macrocephaly, frontal bossing, triangular face, dentinogenesis imperfecta, high-pitched voice
Diagnosis/Initial osteogenesis imperfecta
Inheritance Familial, autosomal recessive
Diagnosis/Definite CLCRP2
Age/Examination -
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 2026-01-10 09:44:14 +01:00 (CET)
Date last edited N/A

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