Disease #01847 (L2HGA (aciduria, L-2-hydroxyglutaric (L2HGA)), OMIM:236792)

Official abbreviation L2HGA
Name aciduria, L-2-hydroxyglutaric (L2HGA)
OMIM ID 236792
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 212
Phenotype entries for this disease 212
Associated with 1 gene L2HGDH
Associated tissues -
Disease features -
Remarks -


Individuals

212 entries on 3 pages. Showing entries 1 - 100.
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00080963 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - L2HGA L-2-hydroxyglutaric aciduria (OMIM:236792) L2HGDH L2HGDH 1 1 Daniel Trujillano
00081046 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - L2HGA L-2-hydroxyglutaric aciduria (OMIM:236792) L2HGDH L2HGDH 1 1 Daniel Trujillano
00185377 - PubMed: Topcu 2004, OMIM:var0001 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185378 - PubMed: Topcu 2004, OMIM:var0001 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185380 - PubMed: Topcu 2004, OMIM:var0002 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185381 - PubMed: Topcu 2004, OMIM:var0002 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185382 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185383 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185384 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185385 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185386 - PubMed: Topcu 2004, OMIM:var0003 consanguineous parents (2nd degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185387 - PubMed: Topcu 2004, OMIM:var0003 consanguineous parents (2nd degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185388 - PubMed: Topcu 2004, OMIM:var0002 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185390 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185391 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185392 - PubMed: Topcu 2004, OMIM:var0005 consanguineous parents (3rd degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185393 - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185394 - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185395 - PubMed: Topcu 2004 - - no Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185397 - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185398 - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185399 - PubMed: Topcu 2004, OMIM:var0001 consanguineous parents (2nd degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185400 - PubMed: Topcu 2004 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185401 - PubMed: Rzem 2004, PubMed: Rzem 2006 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185402 - PubMed: Rzem 2004, PubMed: Rzem 2006 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185403 - PubMed: Rzem 2004, PubMed: Rzem 2006 consanguineous parents (1st degree) - yes Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185404 - PubMed: Vilarinho 2005 - - - Lithuania - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185405 - PubMed: Vilarinho 2005 - - - Pakistan - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185406 - PubMed: Vilarinho 2005 - - - France - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185407 - PubMed: Vilarinho 2005 - - - Germany - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185408 - PubMed: Vilarinho 2005 - - - South Africa - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185410 - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185411 - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185412 - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185413 - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185414 - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185415 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185416 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185418 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185419 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185420 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185421 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185422 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185423 - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185424 - PubMed: Sass 2008 - M - Lithuania - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185425 - PubMed: Sass 2008 - M - Pakistan - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185426 - PubMed: Sass 2008 - F - Pakistan - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185427 - PubMed: Sass 2008 Second allele not identified, sporadic, consanguineous parents (1st degree) F yes France - - 0 - - L2HGA - L2HGDH L2HGDH 1 1 Gajja Salomons
00185428 - PubMed: Topcu 2004, OMIM:var0001 - M - Germany - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185429 - PubMed: Sass 2008 - M - South Africa - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185430 - PubMed: Topcu 2004, OMIM:var0004 - M - Lebanon - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185431 - PubMed: Topcu 2004, OMIM:var0004 - F - Lebanon - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185432 - PubMed: Sass 2008 - M - South Africa - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185433 - PubMed: Sass 2008 - M - South Africa - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185434 - PubMed: Sass 2008 - F - South Africa - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185435 - PubMed: Sass 2008 - F - South Africa - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185436 - PubMed: Sass 2008 - M - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185437 - PubMed: Topcu 2004, OMIM:var0002 - F - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185438 - PubMed: Sass 2008 - F - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185439 - PubMed: Sass 2008 - M - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185440 - PubMed: Sass 2008 - M - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185441 - PubMed: Sass 2008 - M - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185442 - PubMed: Sass 2008 - M - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185443 - PubMed: Sass 2008 - M - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185444 - PubMed: Sass 2008 - F - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185445 - PubMed: Sass 2008 - M - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185446 - PubMed: Sass 2008 - M - Venezuela - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185447 - PubMed: Vilarinho 2005 - M no Spain - - 0 - - L2HGA developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185450 - PubMed: Steenweg 2010 - M no Croatia (Hrvatska) - - 0 - - L2HGA walk 17m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185454 - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - Germany - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185458 - PubMed: Steenweg 2010 - F no Germany - - 0 - - L2HGA walk 15m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185461 - PubMed: Vilarinho 2005 - F no Netherlands - - 0 - - L2HGA walk 15m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185462 - PubMed: Steenweg 2010 - M yes Israel - - 0 - - L2HGA walk 20m; developmental delay; no epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185465 - PubMed: Steenweg 2010 - M yes Germany - - 0 - - L2HGA walk 13m; no developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185469 - PubMed: Vilarinho 2005 - M - Germany - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185474 - PubMed: Rzem 2004, PubMed: Rzem 2006 - F yes Germany - - 0 - - L2HGA walk 13m; no developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185475 - PubMed: Topcu 2004 - - - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185476 - PubMed: Topcu 2004, OMIM:var0004 - M no Greece - - 0 - - L2HGA walk 18m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; behavioral problems; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185479 - PubMed: Topcu 2004, OMIM:var0001 - F yes Turkey - - 0 - - L2HGA walk 18m; developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185481 - PubMed: Sass 2008 - F - France - - 0 - - L2HGA walk 30m; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185482 - PubMed: Vilarinho 2005 - - - France - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185483 - PubMed: Steenweg 2010 - M - United Kingdom (Great Britain) - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185485 - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185487 - PubMed: Vilarinho 2005 - F no Greece - - 0 - - L2HGA walk 24m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185488 - PubMed: Steenweg 2010 - F yes United Kingdom (Great Britain) - - 0 - - L2HGA no developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185490 - PubMed: Steenweg 2010 - M no Spain - - 0 - - L2HGA developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; behavioral problems; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185494 - PubMed: Topcu 2004, OMIM:var0001 - F yes Denmark - - 0 - - L2HGA developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185496 - PubMed: Steenweg 2010 - M - Switzerland - - 0 - - L2HGA walk 18m; developmental delay; epilepsy; no cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185500 - PubMed: Topcu 2004, OMIM:var0004 - F no Greece - - 0 - - L2HGA walk 20m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185501 - PubMed: Steenweg 2010 - - - Spain - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185504 - PubMed: Steenweg 2010 - F yes Spain - - 0 - - L2HGA walk 48m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185505 - PubMed: Steenweg 2010 - M no Canada - - 0 - - L2HGA developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185508 - PubMed: Steenweg 2010 - M no Poland - - 0 - - L2HGA walk 14m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185511 - PubMed: Steenweg 2010 - F yes Switzerland - - 0 - - L2HGA walk 18m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185513 - PubMed: Steenweg 2010 - M no Italy - - 0 - - L2HGA walk 19m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185515 - PubMed: Steenweg 2010 - F yes Italy - - 0 - - L2HGA walk 20m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGDH L2HGDH 1 1 Gajja Salomons
00185516 - PubMed: Vilarinho 2005 - - - Italy - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185517 - PubMed: Vilarinho 2005 - - - Italy - - 0 - - L2HGA - L2HGDH L2HGDH 2 1 Gajja Salomons
00185518 - PubMed: Steenweg 2010 - M no Italy - - 0 - - L2HGA walk 13m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
00185521 - PubMed: Steenweg 2010 - M no Germany - - 0 - - L2HGA walk 16m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGDH L2HGDH 2 1 Gajja Salomons
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