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

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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214 entries on 3 pages. Showing entries 1 - 100.

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Phenotype ID	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
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
0000145654	-	L2HGA	L2HGA	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185523

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Global Variome shared LOVD

MMACHC (methylmalonic aciduria (cobalamin deficien...))