Global Variome shared LOVD

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Phenotype #0000355073 Individual ID 00469928 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite MONA Phenotype details see paper; ..., subcutaneous nodules, no skin lesions, no hyperpigmentation; hirsutism; no coarse face; no corneal opacity; bulbous nose; no gingival hypertrophy; osteolysis of carpal/tarsal bones, osteolysis phalangeal joints; osteoporosis/osteopenia; no wide metacarpals/metatarsals; joint contractures; joint swelling; no joint stiffness; joint pain; loss of joint space; no congenital heart defects; subcutaneous swelling over both feet Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-23 14:55:04 +01:00 (CET) Date last edited N/A

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