Phenotype #0000324702

Individual ID 00434345
Associated disease NP
Diagnosis/Initial Niemann-Pick type C disease, juvenile
Diagnosis/Definite NPC1
Phenotype details classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)
Inheritance Familial, autosomal recessive
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-03-23 15:25:57 +01:00 (CET)
Date last edited N/A

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