Phenotypes for disease #01847 (L2HGA (aciduria, L-2-hydroxyglutaric (L2HGA)), OMIM:236792)

212 entries on 3 pages. Showing entries 1 - 100.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000060532 L-2-hydroxyglutaric aciduria (OMIM:236792) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080963
0000060615 L-2-hydroxyglutaric aciduria (OMIM:236792) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00081046
0000145508 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185377
0000145509 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185378
0000145511 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185380
0000145512 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185381
0000145513 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185382
0000145514 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185383
0000145515 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185384
0000145516 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185385
0000145517 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185386
0000145518 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185387
0000145519 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185388
0000145521 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185390
0000145522 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185391
0000145523 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185392
0000145524 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185393
0000145525 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185394
0000145526 - L2HGA L2HGA Isolated (sporadic) - - - - - Gajja Salomons 00185395
0000145528 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185397
0000145529 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185398
0000145530 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185399
0000145531 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185400
0000145532 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185401
0000145533 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185402
0000145534 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185403
0000145535 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185404
0000145536 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185405
0000145537 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185406
0000145538 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185407
0000145539 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185408
0000145541 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185410
0000145542 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185411
0000145543 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185412
0000145544 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185413
0000145545 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185414
0000145546 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185415
0000145547 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185416
0000145549 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185418
0000145550 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185419
0000145551 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185420
0000145552 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185421
0000145553 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185422
0000145554 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185423
0000145555 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185424
0000145556 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185425
0000145557 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185426
0000145558 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185427
0000145559 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185428
0000145560 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185429
0000145561 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185430
0000145562 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185431
0000145563 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185432
0000145564 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185433
0000145565 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185434
0000145566 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185435
0000145567 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185436
0000145568 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185437
0000145569 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185438
0000145570 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185439
0000145571 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185440
0000145572 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185441
0000145573 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185442
0000145574 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185443
0000145575 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185444
0000145576 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185445
0000145577 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185446
0000145578 developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGA L2HGA Isolated (sporadic) - - 7m - - Gajja Salomons 00185447
0000145581 walk 17m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 18m - - Gajja Salomons 00185450
0000145585 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185454
0000145589 walk 15m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 42m - - Gajja Salomons 00185458
0000145592 walk 15m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 8m - - Gajja Salomons 00185461
0000145593 walk 20m; developmental delay; no epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 4m - - Gajja Salomons 00185462
0000145596 walk 13m; no developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 10m - - Gajja Salomons 00185465
0000145600 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185469
0000145605 walk 13m; no developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 9m - - Gajja Salomons 00185474
0000145606 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185475
0000145607 walk 18m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; behavioral problems; loss of milestones L2HGA L2HGA Isolated (sporadic) - - 12m - - Gajja Salomons 00185476
0000145610 walk 18m; developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 18m - - Gajja Salomons 00185479
0000145612 walk 30m; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 30m - - Gajja Salomons 00185481
0000145613 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185482
0000145614 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185483
0000145616 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185485
0000145618 walk 24m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 13y6m - - Gajja Salomons 00185487
0000145619 no developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 12m - - Gajja Salomons 00185488
0000145621 developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; behavioral problems; loss of milestones L2HGA L2HGA Isolated (sporadic) - - 18m - - Gajja Salomons 00185490
0000145625 developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185494
0000145627 walk 18m; developmental delay; epilepsy; no cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 30m - - Gajja Salomons 00185496
0000145631 walk 20m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 6m - - Gajja Salomons 00185500
0000145632 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185501
0000145635 walk 48m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 6m - - Gajja Salomons 00185504
0000145636 developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones L2HGA L2HGA Isolated (sporadic) - - 23y - - Gajja Salomons 00185505
0000145639 walk 14m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 72m - - Gajja Salomons 00185508
0000145642 walk 18m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 36m - - Gajja Salomons 00185511
0000145644 walk 19m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGA L2HGA Isolated (sporadic) - - 17m - - Gajja Salomons 00185513
0000145646 walk 20m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGA L2HGA Familial, autosomal recessive - - 12m - - Gajja Salomons 00185515
0000145647 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185516
0000145648 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons 00185517
0000145649 walk 13m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones L2HGA L2HGA Isolated (sporadic) - - 8m - - Gajja Salomons 00185518
0000145652 walk 16m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones L2HGA L2HGA Isolated (sporadic) - - 36m - - Gajja Salomons 00185521
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