All individuals with variants in gene JPH3

19 entries on 1 page. Showing entries 1 - 19.
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00003127 FamWPatIII19 PubMed: Margolis 2001, PubMed: Holmes 2001 3-generation family, 17 affected F no United States African-American >37y - - - HDL2 weight loss, dementia, psychiatric symptoms, dysarthria, chorea, rigidity, dystonia, action tremor, hyperreflexia, extensor plantars, primitive reflexes, bradykinesia, reduced movement, no dysmetria, not ambulatory, saccadic pursuit 2 17 Johan den Dunnen
00003128 - PubMed: Margolis 2001, PubMed: Holmes 2001 - F no United States African-American >47y - - - HDL2 weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, action tremor, hyperreflexia, (extensor plantars), reduced movement, not ambulatory, no saccadic pursuit 2 1 Johan den Dunnen
00003129 - PubMed: Margolis 2001, PubMed: Holmes 2001 - F no United States African-American >52y - - - HDL2 weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, no action tremor, hyperreflexia, extensor plantars, primitive reflexes, bradykinesia, reduced movement, not ambulatory, no saccadic pursuit 2 1 Johan den Dunnen
00019959 Pat9;Pat4 PubMed: Ockeloen 2015, PubMed: Monroe 2016 2 generation family, affected twins (F, M), unaffected non carrier parents F - (Netherlands) - - - - - KBGS - 1 2 Helger Yntema
00050549 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? hypertelorism, depressed nasal bridge, generalized hypotonia 1 1 Johan den Dunnen
00313932 patient PubMed: Bourinaris 2021, Journal: Bourinaris 2021 adopted F - United Kingdom (Great Britain) - - - - - DYT see paper; ..., neurodevelopmental anomalies, delayed motor milestones, abnormal social communication, language difficulties, borderline cognitive impairment; paroxysmal attacks of dystonia since early infancy 1 1 Stephanie Efthymiou
00441911 patient PubMed: Holmes 2001 family, affected sister/brother F - United States African-American - - - - HDL2 - 1 2 Johan den Dunnen
00441912 patient PubMed: Holmes 2001 brother M - United States African-American - - - - HDL2 - 1 1 Johan den Dunnen
00441913 patient PubMed: Holmes 2001 - M - United States African-American - - - - HDL2 - 1 1 Johan den Dunnen
00441914 patient PubMed: Holmes 2001 - M - United States African-American - - - - HDL2 - 1 1 Johan den Dunnen
00441915 patient PubMed: Holmes 2001 - M - United States - - - - - HDL2 sudden onset cerebellar signs, uncontrolled diabetes, no clear family history 1 1 Johan den Dunnen
00441916 patient PubMed: Holmes 2001 - F - Morocco - - - - - HDL2 movement disorder 1 1 Johan den Dunnen
00441917 SAL-2289-001 PubMed: Stevanin 2002 patient F - Morocco - - - - - HDL2 see paper; ..., 42y-mild choreic movements face and extremities; slight memory loss, bedside Mini-Mental Status score of 22/30; subcortical dementia 1 1 Johan den Dunnen
00441918 FamPatIv1/Pat1 PubMed: Walker 2003 5-generation family, 3 affected (3M) M - United States African-American;American-native-Cherokee;white - - - - HDL2 56y-deceased; dementia, chorea 2 3 Johan den Dunnen
00441919 FamPatV1/Pat2 PubMed: Walker 2003 - M - United States African-American;American-native-Cherokee;white - - - - HDL2 dementia, chorea, fragile X syndrome 2 1 Johan den Dunnen
00441920 FamPatV5/Pat3 PubMed: Walker 2003 - M - United States African-American;American-native-Cherokee;white - - - - HDL2 dementia, parkinsonism 2 1 Johan den Dunnen
00441921 Fam3Pat6 PubMed: Walker 2003 - F - Mexico - - - - - HDL2 dementia, chorea, parkinsonism 2 3 Johan den Dunnen
00441922 Fam3Pat7 PubMed: Walker 2003 - M - Mexico - - - - - HDL2 depression, mild chorea, aggressiveness 2 1 Johan den Dunnen
00441923 Fam3Pat8 PubMed: Walker 2003 - M - Mexico - - - - - HDL2 depression, mild chorea 2 1 Johan den Dunnen
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