Global Variome shared LOVD

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Phenotype #0000351307 Individual ID 00465858 Associated disease ? Diagnosis/Initial Catel-Manzke syndrome Diagnosis/Definite CATMANS Phenotype details see paper; ..., no intrauterine growth retadation; 5m-short stature (-2.5 SD); retarded bone age; joint dislocations knees; hands extra ossification center at the base of index phalanx; ; cleft soft palate, atrial septum defect, ventricular septum defect; prominent eyes, low-set posteriorly rotated ears, microretrognathism; no intellectual disability Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-07 14:19:00 +02:00 (CEST) Date last edited N/A

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