Global Variome shared LOVD

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Phenotype #0000104258 Individual ID 00132078 Associated disease SRTD3 Phenotype details see paper; ..., stillbirth, ciliopathy Diagnosis/Initial short-rib thoracic dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite SRTD3 Age/Examination 00y00m00d () Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karina Silveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-10-21 23:47:54 +02:00 (CEST) Date last edited 2026-06-04 19:52:40 +02:00 (CEST)

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