Global Variome shared LOVD

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Phenotype #0000254046 Individual ID 00358831 Associated disease Crouzon Phenotype details Crouzon syndrome, craniosynostosis, scoliosis, exophthalmos, limited elbow extension, right eye almost blind, left eye visual acuity approx. 2%, no hearing loss, father, brother and his daughter also affected. Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-15 15:00:34 +01:00 (CET) Date last edited 2021-03-16 10:33:13 +01:00 (CET)

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