Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000318912 Individual ID 00427966 Associated disease DBQD1 Phenotype details Abnormality of prenatal development or birth, Short long bone, Abnormal fetal skeletal morphology, Skeletal dysplasia, Aplasia/Hypoplasia involving bones of the thorax Diagnosis/Initial prenatal Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-12-19 12:01:24 +01:00 (CET) Date last edited 2022-12-19 16:30:29 +01:00 (CET)

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