Phenotype #0000106827

Individual ID 00134069
Associated disease TRPS1
Phenotype details cone-shaped epiphysis middle phalanges; ulnar and radius epiphysis hypoplasia; flattened femoral epiphysis; sparse scalp hair; bulbous nose; brachydactyly-E; no delayed bone maturation; no calcification; dysmorphic face; short stature (<3rd centile)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Arrate Pereda
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Guiomar Perez de Nanclares
Date created 2017-11-24 11:57:09 +01:00 (CET)
Date last edited 2025-02-03 10:06:45 +01:00 (CET)

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