Global Variome shared LOVD

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Phenotype #0000350366 Individual ID 00464312 Associated disease ? Diagnosis/Initial - Diagnosis/Definite SSMG Phenotype details see paper; ..., 21gw-aborted fetus; generalized decreased bone density skull, brachycephaly, narrow thorax, short narrow ribs, bilateral short upper/lower extremities, foreshortened humeri, radius, ulna, femori, and tibia; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening Inheritance Unknown Age/Examination <0d Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-03-01 09:13:49 +01:00 (CET) Date last edited N/A

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