Phenotype #0000036589

Individual ID 00049815
Associated disease DA3
Phenotype details contractures hand/feet, cleft pallate, short stature, ophthalmoplegia, scoliosis, Chiari I malformation, mild ptosis
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2015-09-12 18:00:01 +02:00 (CEST)
Date last edited N/A

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