Phenotype #0000324691

Global Variome shared LOVD

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

Individual ID	00434334
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease, late infantile
Diagnosis/Definite	NPC1
Phenotype details	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)
Inheritance	Familial, autosomal recessive
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-23 15:25:57 +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.