Global Variome shared LOVD

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

Phenotype #0000325190 Individual ID 00434943 Associated disease NP Diagnosis/Initial Niemann-Pick type C, severe infantile Diagnosis/Definite NPC1 Phenotype details hepatosplenomegaly, hypotonia, failure to thrive Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 6m Age/Onset 1m Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-04-14 17:49:22 +02:00 (CEST) Date last edited N/A

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