Global Variome shared LOVD

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Phenotype #0000298409 Individual ID 00405912 Associated disease SRTD3 Phenotype details Short stature, narrow thorax, limb shortening, vertebral anomalies, pelvic abnormalities, bilateral hands and feet postaxial polydactyly, renal anomalies, situs inversus totalis Diagnosis/Initial Short rib thoracic dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite Short rib thoracic dysplasia type 3 Age/Examination 00y05m (5 months) Age/Diagnosis 00y05m 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 13:47:50 +01:00 (CET) Date last edited 2022-03-28 10:42:06 +02:00 (CEST)

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