Global Variome shared LOVD

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

Phenotype #0000355365 Individual ID 00470220 Associated disease ? Diagnosis/Initial infantile hepatopathy Diagnosis/Definite - Phenotype details see paper; ..., <3m-deceased; no myoclonic seizures; no generalized tonic-clonic seizures; no focal motor seizures; no epilepsia partialis continua/status; developmental delay or regression; no ataxia; no visual disturbance; no motor paresis; hypotonia; no tremor Inheritance Familial, autosomal recessive Age/Examination 1.5m 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 2025-11-28 11:03:05 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.