Phenotype #0000298453

Individual ID 00405955
Associated disease SRTD3
Phenotype details Short stature, narrow thorax, limb shortening, vertebral anomalies, pelvic abnormalities, hand and feet postaxial polydactyly, renal anomalies, intestinal malrotation
Diagnosis/Initial Short rib thoracic dysplasia type 3
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 15:41:00 +01:00 (CET)
Date last edited 2022-03-28 10:45:17 +02:00 (CEST)

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