Global Variome shared LOVD

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Phenotype #0000355021 Individual ID 00469876 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite MONA Phenotype details subcutaneous nodules, skin lesions, hyperpigmentation; no hirsutism; coarse face; ; bulbous nose; no gingival hypertrophy; osteolysis of carpal/tarsal bones, osteolysis phalangeal joints; osteoporosis/osteopenia; wide metacarpals/metatarsals; joint contractures; joint swelling; no joint stiffness; joint pain; loss of joint space; no congenital heart defects; camptodactyly, subluxation 1–5 MTP joints, ankylosis carpal bones Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 07y 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 2025-11-20 12:33:13 +01:00 (CET) Date last edited 2025-11-23 14:50:27 +01:00 (CET)

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