Phenotype #0000157364

Individual ID 00208746
Associated disease EXT2
Phenotype details multiple exostoses (HP:0002762); left arm humerus; exostoses hand (HP:0004276), carpals; exostoses leg, bilateral femur/thigh bones, bilateral knees, left fibula, bilateral tibia/shin bone; exostoses foot, bilateral talus; exostoses chest, scapula, right ribs
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 30y (30 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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