Global Variome shared LOVD

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Phenotype #0000298404 Individual ID 00405908 Associated disease SRTD1 Phenotype details Oral frenula, short stature, narrow thorax, limb shortening, irregular metaphyses, bilateral hands postaxial polydactyly, pulmonary insufficiency Diagnosis/Initial Jeune syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Jeune syndrome Age/Examination 00y01m (1 month) Age/Diagnosis 00y01m Age/Onset - Phenotype/Onset - Protein - Owner name Alessandro De Luca Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Alessandro De Luca Date created 2022-03-23 12:28:35 +01:00 (CET) Date last edited 2022-03-28 10:32:55 +02:00 (CEST)

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