Global Variome shared LOVD

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Phenotype #0000356945 Individual ID 00472137 Associated disease OI Phenotype details see paper; ..., short stature, craniofacial abnormalities, prominent eye, micrognathia, short neck, scoliosis, chest deformity) ocularproptosis, marked frontal bossing, midface hypoplasia, micrognathia, low bone mineral density Diagnosis/Initial Cole-Carpenter syndrome 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 International Created by Johan den Dunnen Date created 2026-01-10 10:57:06 +01:00 (CET) Date last edited N/A

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