Phenotype #0000129997

Individual ID 00165102
Associated disease NPC1
Phenotype details Prolonged neonatal jaundice (HP:0006579)
Splenomegaly (HP:0001744)
Intellectual disability, progressive (HP:0006887)
Clumsiness (HP:0002312)
Spastic ataxia (HP:0002497)
Slowed slurred speech (HP:0007164)
Schizophrenia (HP:0100753)
Dysphagia (HP:0002015)
Frequent falls (HP:0002359)
Vertical supranuclear gaze palsy (HP:0000511)
Choreoathetosis (HP:0001266)
Limb dystonia (HP:0002451)
Limb myoclonus (HP:0045084)
Diagnosis/Initial Intellectual disability
Inheritance Isolated (sporadic)
Diagnosis/Definite Niemann-Pick disease type C1
Age/Examination 25y (25 years)
Age/Diagnosis 25y
Age/Onset 11y
Phenotype/Onset Mental retardation
Protein -
Owner name Tomoya Kawazoe
Database submission license No license selected
Created by Tomoya Kawazoe
Date created 2018-06-25 18:23:06 +02:00 (CEST)
Date last edited 2018-07-04 14:22:09 +02:00 (CEST)

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