Global Variome shared LOVD

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

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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