Phenotype #0000054229

Individual ID 00074411
Associated disease CPSFS1A
Phenotype details knee contractures (HP:0006380), scoliosis (HP:0002650), short neck (HP:0000470), short stature (HP:0004322), vertebral fusion C1-C2 (HP:0002948), craniosynostosis (HP:00013630)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-06-27 20:26:49 +02:00 (CEST)
Date last edited 2017-07-24 21:20:50 +02:00 (CEST)

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