Phenotypes for disease #01975

6 entries on 1 page. Showing entries 1 - 6.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000053270 - - - Familial, autosomal recessive - - - - - Claire Guissart 00073121
0000053271 - - - Familial, autosomal recessive - - - - - Claire Guissart 00073122
0000105569 see paper; ..., progressive impairment of fine movements, dysarthria; 28y-vertical gaze paralysis, severe dysarthria, dysphagia, ataxia, tremor, intellectual impairment; sister 25y-gait ataxia, 20y-dysarthria, 24y-vertical gaze paralysis - - Familial, autosomal recessive 33y - 10y - - Johan den Dunnen 00132806
0000129997 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) Intellectual disability Niemann-Pick disease type C1 Isolated (sporadic) 25y 25y 11y Mental retardation - Tomoya Kawazoe 00165102
0000130050 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) Orofacial/Oromandibular Dystonia Niemann-Pick disease type C1 Familial, autosomal recessive 28y 28y ? Dystonia - Tomoya Kawazoe 00165175
0000130052 Schizophrenia (HP:0100753) Splenomegaly (HP:0001744) Schizophrenia Niemann-Pick disease type C1 Familial, autosomal recessive 35y 35y 22y Schizophrenia - Tomoya Kawazoe 00165176
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