Phenotype #0000355878

Individual ID 00471016
Associated disease TKS
Phenotype details Craniosynostosis, Hypertelorism, Joint contracture, Arachnodactyly, Patent ductus arteriosus, Microcephaly, Penile hypospadias, Brachyturricephaly, Abnormality of the face, High palate, Abnormality of the outer ear, Pectus excavatum, Sacral dimple, Talipes equinovarus, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Inguinal hernia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 00y08m (8 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2025-12-15 11:39:55 +01:00 (CET)
Date last edited 2026-02-04 18:07:23 +01:00 (CET)

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