Global Variome shared LOVD

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Phenotype #0000351286 Individual ID 00465839 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite CED1 Phenotype details see paper; ..., Severe skin and joint laxity, intellectual disability, sagittal craniosynostosis (dolichocephaly), typical facial features cranioectodermal dysplasia (prominent forehead, epicanthal folds, depressed nasal bridge, anteverted nares, everted lower lip), micro/hypodontia, short limbs, the typical hand features (brachdactyly, single interphalangeal crease for some fingers and clinodactyly), narrow thorax 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 12:17:17 +02:00 (CEST) Date last edited N/A

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