Phenotype #0000280927

Individual ID 00387363
Associated disease PPD
Diagnosis/Initial preaxial polydactyly
Diagnosis/Definite PPD2
Phenotype details see paper; ..., short stature
(height 135 cm (–6.7 SD)), tibial hypoplasia, preaxial polydactyly both hands, femora mildly shortened,
lower legs severely shortened, preaxial polydactyly both feet; father father only right-sided preaxial polydactyly hand
Inheritance Familial, autosomal dominant
Age/Examination 43y (43 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-28 19:25:10 +02:00 (CEST)
Date last edited N/A

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