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 InternationalCreative Commons License
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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