Phenotypes for disease #01713 (CTLN1 (citrullinemia, type I (CTLN-1)), OMIM:215700)

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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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453 entries on 5 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
0000086895	mild	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	62y	-	-	Johan den Dunnen	00109436
0000086896	severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m05d	-	-	Johan den Dunnen	00109443
0000086897	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m05d	-	-	Johan den Dunnen	00109444
0000086899	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109453
0000086900	severe	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109456
0000086901	severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m03d	-	-	Johan den Dunnen	00109461
0000086902	severe	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109464
0000086903	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109465
0000086904	mild affected (+MR) and asymptomatic sib	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109468
0000086905	mild	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	18y	-	-	Johan den Dunnen	00109469
0000086908	2 asymptomatic sibs	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00109472
0000086909	-	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00109473
0000086910	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m03d	-	-	Johan den Dunnen	00109477
0000086911	severe	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109485
0000086912	see paper; ..., mild	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109488
0000086914	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109490
0000086915	mild	citrullinemia	-	Unknown	-	-	14y	-	-	Johan den Dunnen	00109491
0000086916	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109498
0000086917	severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y08m	-	-	Johan den Dunnen	00109507
0000086918	mild	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109508
0000086919	asymptomatic, identified through newborn screening	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109521
0000086920	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109524
0000086921	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109530
0000086922	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109535
0000086923	mild	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109536
0000086924	see paper; ..., mild	-	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109537
0000086926	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109540
0000086927	see paper; ..., severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109550
0000086928	severe	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109551
0000086929	severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y02m	-	-	Johan den Dunnen	00109552
0000086930	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m03d	-	-	Johan den Dunnen	00109553
0000086931	severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m03d	-	-	Johan den Dunnen	00109554
0000086932	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m22d	-	-	Johan den Dunnen	00109561
0000086933	CCn	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00109562
0000086934	see paper; ..., recurrent generalized tonic clonic seizures, significant hyperammonemia (1,112 μg/dl)	-	-	Familial, autosomal recessive	01y04m	-	-	-	-	Johan den Dunnen	00109545
0000086936	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109519
0000086937	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109502
0000086938	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109565
0000086939	citrullinemia, type I	-	-	Familial, autosomal recessive	25y	-	25y	-	-	Johan den Dunnen	00109546
0000086940	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109423
0000086941	citrullinemia, type I	-	-	Familial, autosomal recessive	-	-	00y08m	-	-	Johan den Dunnen	00109544
0000086942	citrullinemia, type I	-	-	Familial, autosomal recessive	-	-	01y	-	-	Johan den Dunnen	00109479
0000086943	citrullinemia, type I	-	-	Familial, autosomal recessive	-	-	00y08m	-	-	Johan den Dunnen	00109497
0000086944	citrullinemia, type I	-	-	Familial, autosomal recessive	-	-	00y00m24d	-	-	Johan den Dunnen	00109449
0000086945	citrullinemia, type I	-	-	Familial, autosomal recessive	-	-	00y00m07d	-	-	Johan den Dunnen	00109503
0000086946	citrullinemia, type I	-	-	Familial, autosomal recessive	-	-	00y03m	-	-	Johan den Dunnen	00109515
0000086947	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109555
0000143309	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181056
0000143403	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181013
0000187299	see paper; …	ASS deficiency	CTLN-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00248290
0000187300	see paper; …	ASS deficiency	CTLN-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00248291
0000187301	see paper; …	ASS deficiency	CTLN-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00248292
0000339384	Moderate intellectual disability, mild cerebral cortical atrophy, seizures	Citrullinemia	Citrullinemia	Familial, autosomal recessive	32y07m	32y07m	-	-	-	Miriam Erandi Reyna-Fabián	00450323
0000339463	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450402
0000339464	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450403
0000339465	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450404
0000339466	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450405
0000339467	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450406
0000339468	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450407
0000339469	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450408
0000339470	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00450409
0000339545	-	Citrullinemia	Citrullinemia, type I	Familial, autosomal recessive	-	00y01m	-	-	-	Miriam Erandi Reyna-Fabián	00450482
0000340093	hyperammonemia, recurrent crisis with episodes of lethargy	citrullinemia	CTLN1	Familial, autosomal recessive	01y	-	-	-	-	Johan den Dunnen	00451358
0000340094	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m03d	-	-	Johan den Dunnen	00451359
0000340095	symptomatic hyperammonemia	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m03d	-	-	Johan den Dunnen	00109437
0000340096	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m09d	-	-	Johan den Dunnen	00109426
0000340097	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m04d	-	-	Johan den Dunnen	00109517
0000340098	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m04d	-	-	Johan den Dunnen	00109440
0000340099	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m02d	-	-	Johan den Dunnen	00451360
0000340100	-	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	5d	-	-	Johan den Dunnen	00451361
0000340101	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m04d	-	-	Johan den Dunnen	00109496
0000340102	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y06m	-	-	Johan den Dunnen	00109543
0000340103	pregnancy/postpartum	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109556
0000340104	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y04m	-	-	Johan den Dunnen	00109558
0000340105	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m04d	-	-	Johan den Dunnen	00109557
0000340106	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	05y	-	-	Johan den Dunnen	00109445
0000340107	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m01d	-	-	Johan den Dunnen	00109559
0000340108	severe	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m07d	-	-	Johan den Dunnen	00109518
0000340109	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m05d	-	-	Johan den Dunnen	00109522
0000340110	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	18y	-	-	Johan den Dunnen	00109526
0000340111	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	03y	-	-	Johan den Dunnen	00109500
0000340112	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y00m05d	-	-	Johan den Dunnen	00109542
0000340113	mild/asymptomatic	citrullinemia	CTLN1	Familial, autosomal recessive	00y00m08d	-	-	-	-	Johan den Dunnen	00109539
0000340114	pregnancy/postpartum	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	25y	-	-	Johan den Dunnen	00109492
0000340115	pregnancy/postpartum	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	25y	-	-	Johan den Dunnen	00109448
0000340116	mild/asymptomatic]	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y02m	-	-	Johan den Dunnen	00109493
0000340117	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	00y07m	-	-	Johan den Dunnen	00109494
0000340118	deceased	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109438
0000340123	Right cryptorchidism	Citrullinemia	Citrullinemia	Familial, autosomal recessive	-	00y01m	-	-	-	Miriam Erandi Reyna-Fabián	00451368
0000340124	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109427
0000340125	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109454
0000340126	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109483
0000340127	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109520
0000340128	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00109534
0000340129	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451370
0000340130	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451371
0000340131	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451372
0000340132	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451373
0000340133	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451374
0000340134	see paper; ...	citrullinemia	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451375

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Global Variome shared LOVD

DNAAF1 (dynein, axonemal, assembly factor 1)