Global Variome shared LOVD

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Phenotype #0000127079 Individual ID 00154405 Associated disease CLCRP Diagnosis/Initial - Diagnosis/Definite - Phenotype details see papers; ..., craniosynostosis, no Wormian bones, communicating hydrocephalus, midface hypoplasia, ocular proptosis, cognitive function normal, sclera white, normal teeth, normal hearing, normal vision, 2m-first fracture, final height 97 cm, lumbar spine areal BMD before pamidronate treatment z-score -5.0, lumbar spine areal BMD after pamidronate z-score -4.2, long-bone deformities, scoliosis, vertebral compression fractures, wheelchair bound, normal serum biochemistry (calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone) Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - 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 2018-02-23 15:21:08 +01:00 (CET) Date last edited N/A

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