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 InternationalCreative Commons License
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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