Global Variome shared LOVD

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Phenotype #0000230596 Individual ID 00303519 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, lymphadenopathy, hepatosplenomegaly, skin rash, recurrent fever, cholestasis, HLH Inheritance Isolated (sporadic) Age/Examination 22m 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 2020-06-15 17:08:24 +02:00 (CEST) Date last edited N/A

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