All individuals with variants in gene NPC1

12 entries on 1 page. Showing entries 1 - 12.
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00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00073121 - ATX42 - F no France - - 0 - - NPC-1 - 2 1 Claire Guissart
00073122 - ATX498 - F no France - - 0 - - NPC-1 - 2 1 Claire Guissart
00132806 15459971 PubMed: Di Leo 2004 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Italy - - 0 - - NPC-1 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 6 2 Johan den Dunnen
00148570 - - - F - - - - 0 - - NPC-1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00165102 Case 1 Kawazoe T, submitted - M no Japan - 25y 0 - Miglustat NPC-1 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) 1 1 Tomoya Kawazoe
00165175 Case 2 Kawazoe T, submitted - F no Japan - 28y 0 - Miglustat NPC-1 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) 1 2 Tomoya Kawazoe
00165176 Case 3 Kawazoe T, submitted - F no Japan - 35y 0 - Miglustat NPC-1 Schizophrenia (HP:0100753) Splenomegaly (HP:0001744) 1 1 Tomoya Kawazoe
00181150 72440 - - M no Eritrea - - 0 - - EE - 1 1 Anaïs Begemann
00208611 Fam918 - - - - - - - 0 - - cancer, rectal - 1 2 Xiang Jiao
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