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 InternationalCreative Commons License
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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