Phenotype #0000324722

Global Variome shared LOVD

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

Individual ID	00434365
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease
Diagnosis/Definite	NPC2
Phenotype details	6y5m-splenomegaly;, school problems; 11y-epileptic fits; mental retardation, slow progression, 21y-still able to walk (affected sister similar course, 27y-still alive)
Inheritance	Familial, autosomal recessive
Age/Examination	2iy
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-23 19:05:01 +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.