Phenotype #0000351263

Individual ID 00465816
Associated disease ?
Diagnosis/Initial joint laxity
Diagnosis/Definite ARCL3A
Phenotype details see paper; ..., Skin and joint laxity, facial dysmorphism (triangular face, congenital cataract, hypertelorism, short nose, low-set ears, long philtrum, and small chin), Wormian bones, camptodactyly of the thumbs, genu valgum, ventricular septal defect
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 InternationalCreative Commons License
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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