Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000298454 Individual ID 00405956 Associated disease SRTD3 Phenotype details Short satature, narrow thorax, limb shortening, hands and feet postaxial polydactyly, renal anomalies Diagnosis/Initial Short rib thoracic dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite Short rib thoracic dysplasia type 3 Age/Examination - Age/Diagnosis - 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 16:02:05 +01:00 (CET) Date last edited 2022-03-28 10:46:30 +02:00 (CEST)

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