Phenotype #0000130050

Individual ID 00165175
Associated disease NPC1
Phenotype details Splenomegaly (HP:0001744)
Auditory hallucinations (HP:0008765)
Enuresis nocturna (HP:0010677)
Sleep paralysis (HP:0025233)
Abnormal eating behavior (HP:0100738)
Excessive daytime sleepiness (HP:0002189)
Oromandibular dystonia (HP:0012048)
Motor tics (HP:0100034)
Involuntary movements (HP:0004305)
Diagnosis/Initial Orofacial/Oromandibular Dystonia
Inheritance Familial, autosomal recessive
Diagnosis/Definite Niemann-Pick disease type C1
Age/Examination 28y (28 years)
Age/Diagnosis 28y
Age/Onset ?
Phenotype/Onset Dystonia
Protein -
Owner name Tomoya Kawazoe
Database submission license No license selected
Created by Tomoya Kawazoe
Date created 2018-06-29 08:56:55 +02:00 (CEST)
Date last edited 2018-07-04 14:21:59 +02:00 (CEST)

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