All individuals with variants in gene HSD17B10

29 entries on 1 page. Showing entries 1 - 29.
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00000166 - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond 1 208 Johan den Dunnen
00001683 - PubMed: Ensenauer 2002, Patient 2; PubMed: Ofman 2003, Patient 3 - M ? - - - - - - HSD10MD ascertainment clinical presentation; developmental regression, dystonia, blindness, epilepsy 1 1 Division of Human Genetics, Innsbruck
00001684 - PubMed: Ensenauer 2002, Patient 1; PubMed: Ofman 2003, Patient 2 - F ? - - - - - - HSD10MD ascertainment clinical presentation; psychomotor retardation 1 1 Division of Human Genetics, Innsbruck
00001685 - PubMed: Rauschenberger 2010, Case 2 - M ? - - - - - - HSD10MD - 1 1 Division of Human Genetics, Innsbruck
00001686 - PubMed: Rauschenberger 2010, Case 1 - M ? Germany - 00y06m - - - HSD10MD ascertainment clinical presentation; severe hypotonia, no development, cardiomyopathy; phenotype onset neonatal; biochemical phenotype typical for disease 1 1 Division of Human Genetics, Innsbruck
00001687 - PubMed: Poll-The 2004 - M ? - - - - - - HSD10MD ascertainment clinical presentation; developemtnal delay, plagiocephaly, fontal bosssing, short nose, dysplastic ears. 5th finger and toe clinodactyly, moderate syndactyly of 2nd, 3rd 4th fingers 1 1 Division of Human Genetics, Innsbruck
00001688 - Submitted by J. Zschocke - M ? - - - - - - HSD10MD - 1 1 Division of Human Genetics, Innsbruck
00001689 - Submitted by J. Zschocke - M ? - - - - - - HSD10MD - 1 1 Division of Human Genetics, Innsbruck
00001690 - PubMed: Olpin 2002 - M ? - - - - - - HSD10MD - 1 1 Division of Human Genetics, Innsbruck
00001691 - PubMed: García-Villoria 2009, Patient 6 - M ? - - - - - - HSD10MD ascertainment clinical presentation; developmental regression, ataxia, myoclonus, nystagmus, optic atrophy, retinopathy; biochemical phenotype typical for disease 1 1 Division of Human Genetics, Innsbruck
00001692 - PubMed: Perez-Cerda 2005, Patient 1 - F ? - - - - - - HSD10MD ascertainment clinical presentation; psychomotor retardation, speech delay, hearing loss; phenotype onset first months of life; biochemical phenotype typical for disease 1 1 Division of Human Genetics, Innsbruck
00001693 - PubMed: Perez-Cerda 2005, Patient 2 - M ? - - 00y02m - - - HSD10MD ascertainment clinical presentation; neonatal presentation 1 1 Division of Human Genetics, Innsbruck
00001694 - PubMed: Perez-Cerda 2005, Patient 3 - M ? - - 01y06m - - - HSD10MD ascertainment clinical presentation; neonatal presentation 1 1 Division of Human Genetics, Innsbruck
00001695 - PubMed: García-Villoria 2009, Patient 5 - M ? - - 00y07m - - - HSD10MD ascertainment clinical presentation 1 1 Division of Human Genetics, Innsbruck
00001696 - PubMed: García-Villoria 2009, Patient 3 - M ? - - 00y04m - - - HSD10MD ascertainment clinical presentation 1 1 Division of Human Genetics, Innsbruck
00001697 - PubMed: García-Villoria 2009, Patient 4 - M ? - - - - - - HSD10MD ascertainment clinical presentation; severe neurological impairment at 20 months 1 1 Division of Human Genetics, Innsbruck
00001698 - PubMed: Reyniers 1999, PubMed: Lenski 2007, Patient IV-1 - M ? Luxembourg - - - - - MRXS10 ascertainment clinical presentation; mild mental retardation, choreoathetosis, abnormal behavior 1 1 Division of Human Genetics, Innsbruck
00001699 - PubMed: Tarpey 2009 - ? ? - - - - - - MRXS10 ascertainment clinical presentation; mental retardation 1 1 Division of Human Genetics, Innsbruck
00001700 - PubMed: Zschocke 2000, PubMed: Ofman 2003, Patient 1 - M ? - - - - - - HSD10MD ascertainment clinical presentation 1 1 Division of Human Genetics, Innsbruck
00001701 - PubMed: Sass 2004, PubMed: Ofman 2003, Patient 4 - M ? - - - - - - HSD10MD ascertainment clinical presentation 1 1 Division of Human Genetics, Innsbruck
00001702 - PubMed: Sutton 2003 - M ? - - - - - - HSD10MD - 1 1 Division of Human Genetics, Innsbruck
00001703 - PubMed: Cazorla 2007 - M ? - - - - - - HSD10MD - 1 1 Division of Human Genetics, Innsbruck
00001704 - PubMed: Seaver LH 2011 mixed ancestry (Portual, Hawaii, Japan, China) M ? - - - - - - HSD10MD ascertainment clinical presentation; developmental regression, Hyperkinetic involuntary movement disorder, EEG showed diffuse background slowing and multifocal spike or polyspike activity 1 1 Division of Human Genetics, Innsbruck
00050664 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - ? delayed speech and language development, abnormal facial shape, microcephaly, intrauterine growth retardation, global developmental delay, clinodactyly of the 5th finger, persistence of primary teeth, nasal speech, brachydactyly syndrome 1 2 Johan den Dunnen
00235339 Fam1PatII1 PubMed: Waters 2019 2-generation pedigree (1 affected male), unaffected heterozygous mother M - Canada French-Canadian >11y - yes - HSD10MD, SPG4 elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine), progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270), dysarthria (HP:0001260) 1 1 Sebastien Levesque
00303087 Fam2Pat PubMed: Waters 2019 3-generation family, 2 affected (2M), unaffected carrier mother/grandmother M - Canada - - - - - HSD10MD 19m-transient episode of dystonia/ataxia, MRI brain normal, no cardiac abnormalities, no ophthalmological abnormalities; over time dystonic episodes gradually diminished in frequency and duration 1 2 Johan den Dunnen
00303088 Fam3 PubMed: Waters 2019 3-generation family, affected father/daugther F - Canada - - - - - EA 8w-developmental delay, possible vision problems, signs of mild intellectual deficiency in both parents; 4m-developmental delay, mild axial hypotonia, suspected cortical blindness, no persistent vision problems; walk-15m, speechfew words; MRI brain 23m-normal 1 2 Johan den Dunnen
00303089 Fam4Pat 3-generation family, 1 affected males, heterozygous unaffected mother/grandmother - M - Canada - - - - - HSD10MD suspected possible episodes of absence epilepsy, observed elevations liver transaminases, history of neonatal death sister and mother's new pregnancy; epilepsy not confirmed, cytomegalovirus infection explained transient hepatic abnormalities; 18m-asymptomatic, normal development 1 1 Johan den Dunnen
00391791 189P - - F no Spain - - - - - HSD10MD, ID - 1 1 Alejandro Brea-Fernández
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