Phenotype #0000351303

Individual ID 00465854
Associated disease ?
Diagnosis/Initial Larsen syndrome
Diagnosis/Definite -
Phenotype details see paper; ..., no intrauterine growth retadation; 12y-short stature (-7 SD); ; joint dislocations elbows, hips, knees; hands long, tapering fingers; limited movement of elbows, scoliosis, osteopenia; growth hormone deficiency; broad forehead, round face, blue sclerae; 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 InternationalCreative Commons License
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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