Global Variome shared LOVD

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

Phenotype #0000278973 Individual ID 00385177 Associated disease - Phenotype details HP:0001789 Hydrops fetalis; HP:0001319 Neonatal hypotonia; HP:0001263 Global developmental delay; HP:0000541 Retinal detachment; HP:0007973 Retinal dysplasia Diagnosis/Initial Autosomal Dominant Acrodysostosis type1 Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 0m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-08 17:29:22 +02:00 (CEST) Date last edited N/A

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