Phenotype #0000085543

Individual ID 00107780
Associated disease HLPS
Phenotype details recurrent transient
erythematous papules on the lower abdomen, fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly; Dysosteosclerosis
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2012-08-15 18:22:07 +02:00 (CEST)
Date last edited 2012-08-15 18:25:54 +02:00 (CEST)

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