Global Variome shared LOVD

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Phenotype #0000227564 Individual ID 00300263 Associated disease SRTD Diagnosis/Initial short rib polydactyly syndrome Diagnosis/Definite SRTD7 Phenotype details 23w-delivery; scalp edema; very short, variably bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; flat acetabular roof, narrow sacrosciatic notch; micromelia, bending of the tibae and fibulae; poor mineralization of the hands and feet, no polydactyly Inheritance Familial, autosomal recessive Age/Examination <0d Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-25 19:30:00 +02:00 (CEST) Date last edited N/A

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