Phenotype #0000127078

Individual ID 00154404
Associated disease CLCRP
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see papers; ..., craniosynostosis, Wormian bones, communicating hydrocephalus, midface hypoplasia, ocular proptosis, cognitive function normal, sclera white, dentinogenesis imperfecta, normsl hearing, normal vision, 1m-first fracture, final height 120 cm, lumbar spine areal BMD before pamidronate treatment z-score -3.9, lumbar spine areal BMD after pamidronate z-score -2.4, 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 01y
Phenotype/Onset multiple fractures
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 2018-02-23 15:03:43 +01:00 (CET)
Date last edited 2018-02-23 15:18:45 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.