Phenotype #0000351265

Individual ID 00465818
Associated disease ?
Diagnosis/Initial joint laxity
Diagnosis/Definite ARCL2C
Phenotype details see paper; ..., Cutis laxa, dysmorphic features (short forehead, shallow furrowing at forehead midline, blepharophimosis, strabismus, entropion, infraorbital puffiness, maxillary hypoplasia, crowding of the teeth, prominent jaw, saggy cheeks, an abnormal bulge of the upper third of the nasal spine, saddle nose, anteverted nares (almost tented tip of the nose), long philtrum, midline cleft palate, microstomia), nephrocalcinosis, congenital heart defects
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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