Phenotypes for disease #01844 (CBSD (homocystinuria, CBS deficiency (CBSD)), OMIM:236200)

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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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687 entries on 7 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
0000060613	Thrombosis, hyperhomocysteinemic (OMIM:236200)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00081044
0000143398	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181014
0000199864	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261363
0000199865	mild; no eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261364
0000199866	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261365
0000199867	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261366
0000199868	severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261367
0000199869	mild; ectopia lentis; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261368
0000199870	mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261369
0000199871	moderate	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261370
0000199872	mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261371
0000199873	mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261372
0000199874	severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261373
0000199875	mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261374
0000199876	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261375
0000199877	no eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261376
0000199878	asymptomatic	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261377
0000199879	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261378
0000199880	severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261379
0000199881	severe; ectopia lentis; osteoporosis; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261380
0000199882	eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261381
0000199883	asymptomatic	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261382
0000199884	moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261383
0000199885	severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261384
0000199886	mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261385
0000199887	asymptomatic	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261386
0000199888	eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261387
0000199889	no eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261388
0000199890	severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261389
0000199891	mild; no eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261390
0000199892	severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261391
0000199893	moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261392
0000199894	moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261393
0000199895	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261394
0000199896	moderate	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261395
0000199897	eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261396
0000199898	moderate; eye anomaly; no skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261397
0000199899	moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261398
0000199900	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261399
0000199901	eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261400
0000199902	mild; no eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261401
0000199903	moderate; ectopia lentis; osteoporosis; no vascular anomaly; no skeletal involvement, epilepsy	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261402
0000199904	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261403
0000199905	mild; no eye anomaly; no skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261404
0000199906	moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261405
0000199907	moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261406
0000199908	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261407
0000199909	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261408
0000199910	eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261409
0000199911	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261410
0000199912	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261411
0000199913	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261412
0000199914	asymptomatic	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261413
0000199915	eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261414
0000199916	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261415
0000199917	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261416
0000199918	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261417
0000199919	mild; ectopia lentis; osteoporosis; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261418
0000199920	mild; ectopia lentis; osteoporosis; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261419
0000199921	moderate; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261420
0000199922	eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261421
0000199923	moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261422
0000199924	severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261423
0000199925	severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261424
0000199926	severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261425
0000199927	severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261426
0000199928	moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261427
0000199929	moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261428
0000199930	moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261429
0000199931	moderate; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261430
0000199932	severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261431
0000199933	severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261432
0000199934	ectopia lentis; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261433
0000199935	mild	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261434
0000199936	mild	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261435
0000199937	mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261436
0000199938	mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261437
0000199939	mild	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261438
0000199940	mild	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261439
0000199941	severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261440
0000199942	severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261441
0000199943	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261442
0000199944	mild	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261443
0000199945	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261444
0000199946	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261445
0000199947	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261446
0000199948	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261447
0000199949	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261448
0000199950	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261449
0000199951	mild; eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261450
0000199952	eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261451
0000199953	mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261452
0000199954	mild; eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261453
0000199955	mild; eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261454
0000199956	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261455
0000199957	mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261456
0000199958	moderate; eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261457
0000199959	moderate	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261458
0000199960	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261459
0000199961	see paper; …	homocystinuria	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00261460

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Global Variome shared LOVD

MUT (methylmalonyl CoA mutase)