Phenotype #0000157339

Individual ID 00208721
Associated disease EXT2
Phenotype details multiple exostoses (HP:0002762); exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, right femur/thigh bones, right fibula, bilateral tibia/shin bone; exostoses chest, scapula; deformed radius and ulna shortening; distal synostosis of the fibula and tibia
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 38y (38 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Carmela Fusco
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2018-12-13 00:04:24 +01:00 (CET)
Date last edited 2022-10-07 16:46:52 +02:00 (CEST)

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