Phenotype #0000351304

Individual ID	00465855
Associated disease	?
Diagnosis/Initial	Larsen syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., intrauterine growth retadation; short stature (-5 SD); advanced bone age; joint dislocations hips, radial heads; hands bifid right thumb, broad left thumb, membranous syndactylies; cervical instability with C2–C3 fusion, severe hyperlaxity, knee osteoarthritis, scoliosis; glaucoma, hypercholesterolemia, recurrent venous thrombosis and pulmonary embolism (no thrombophilia); prominent eyes with proptosis, epicanthal folds, micrognathia; 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
Created by	Johan den Dunnen
Date created	2025-06-07 14:19:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD