Global Variome shared LOVD

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Phenotype #0000185027 Individual ID 00245069 Associated disease ML Diagnosis/Initial mucolipidosis Diagnosis/Definite ML-3C Phenotype details weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence; hyperopia, astigmatism Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset thickened finger joints Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-01 17:28:35 +02:00 (CEST) Date last edited N/A

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