Global Variome shared LOVD

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

Phenotype #0000291838 Individual ID 00398754 Associated disease NS7 Phenotype details Failure to thrive, Abnormal hepatic echogenicity, Proptosis, Hypertonia, Low-set ears, High forehead Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 00y07m (7 months) 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 2022-01-11 17:12:29 +01:00 (CET) Date last edited 2022-01-12 17:35:45 +01:00 (CET)

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