Phenotypes for disease #02129 (WND (Wilson disease), OMIM:277900)

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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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Operator	Column type	Example	Matches
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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195 entries on 2 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
0000209037	-	Wilson's disease	Wilson's disease	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00274063
0000233157	characteristic phenotype (Acute on chronic liver failure)	Wilson's disease	-	Familial, autosomal recessive	14y	-	-	-	-	Johan den Dunnen	00307443
0000233158	characteristic phenotype (Elevated liver enzymes)	Wilson's disease	-	Familial, autosomal recessive	17y	-	-	-	-	Johan den Dunnen	00307444
0000233159	characteristic phenotype (Acute on chronic liver failure)	Wilson's disease	-	Familial, autosomal recessive	16y	-	-	-	-	Johan den Dunnen	00307445
0000233168	steatosis hepatitis, elevated liver enzymes, normal ceruloplasmin, urinary copper, cMRI	Wilson's disease	-	Unknown	16y	-	-	-	-	Johan den Dunnen	00307454
0000233169	psychiatric symptoms, all hepatic parameters (ceruloplasmin, ultrasound, liver enzymes) normal	Wilson's disease	-	Unknown	16y	-	-	-	-	Johan den Dunnen	00307455
0000297174	see paper; ...	Wilson disease	WND	Familial, autosomal recessive	02y09m	-	-	-	-	Johan den Dunnen	00404597
0000318804	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427859
0000318805	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427860
0000318806	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427861
0000318807	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427862
0000318808	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427863
0000318809	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427864
0000318810	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427865
0000318811	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427866
0000318812	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427867
0000318813	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427868
0000318814	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427869
0000318815	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427870
0000318816	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427871
0000318817	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Amelie Stalke	00427872
0000319380	see paper; ..., high fever, elevated liver transaminase levels; elevated copper levels, percutaneous liver biopsy subtle portal inflammation, few necrotic hepatocytes, focal steatosis	Wilson disease	WND	Familial, autosomal recessive	03y	-	03y	fever	-	Johan den Dunnen	00428476
0000319381	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	11y	-	-	Johan den Dunnen	00428477
0000319382	see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00428478
0000319383	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	7y	-	-	Johan den Dunnen	00428479
0000319384	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y	-	-	Johan den Dunnen	00428480
0000319385	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428481
0000319386	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428482
0000319387	see paper; ..., normal cognition/behavior; 6y-intermittent fever, vomiting, severe jaundice with ascites and oedema, liver function elevated bilirubin ; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00428483
0000319388	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y	-	-	Johan den Dunnen	00428484
0000319389	see paper; ..., normal cognition/behavior; 2y-weakness upper and lower limbs, 9y-slurring of speech ; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428485
0000319390	see paper; ..., abnormality cognition/behavior; dystonia; tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428486
0000319391	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428487
0000319392	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y6m	-	-	Johan den Dunnen	00428488
0000319393	-	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428489
0000319394	-	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428490
0000319395	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428491
0000319396	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y6m	-	-	Johan den Dunnen	00428492
0000319397	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	13y3m	-	-	Johan den Dunnen	00428493
0000319398	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	13y6m	-	-	Johan den Dunnen	00428494
0000319399	see paper; ..., 17y-slowness of movement, unsteadiness, slurring speech; dystonia involving all 4 limbs; 18y-irritability, aggressive; no tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	17y	-	-	Johan den Dunnen	00428495
0000319400	see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	11y	-	-	Johan den Dunnen	00428496
0000319401	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428497
0000319402	see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	4y	-	-	Johan den Dunnen	00428498
0000319403	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	7y	-	-	Johan den Dunnen	00428499
0000319404	see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y	-	-	Johan den Dunnen	00428500
0000319405	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428501
0000319406	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428502
0000319407	see paper; ..., abnormality cognition/behavior; no dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428503
0000319408	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	2y	-	-	Johan den Dunnen	00428504
0000319409	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00428505
0000319410	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y	-	-	Johan den Dunnen	00428506
0000319411	see paper; ..., abnormality cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	3y	-	-	Johan den Dunnen	00428507
0000319412	see paper; ..., normal cognition/behavior; no dystonia; tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y	-	-	Johan den Dunnen	00428508
0000319413	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428509
0000319414	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y	-	-	Johan den Dunnen	00428510
0000319415	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428511
0000319416	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	12y	-	-	Johan den Dunnen	00428512
0000319417	-	Wilson disease	WND	Familial, autosomal recessive	-	-	12y	-	-	Johan den Dunnen	00428513
0000319418	-	Wilson disease	WND	Familial, autosomal recessive	-	-	13y6m	-	-	Johan den Dunnen	00428514
0000319419	-	Wilson disease	WND	Familial, autosomal recessive	-	-	14y	-	-	Johan den Dunnen	00428515
0000319420	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	16y	-	-	Johan den Dunnen	00428516
0000319421	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	5y6m	-	-	Johan den Dunnen	00428517
0000319422	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00428518
0000319423	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	7y	-	-	Johan den Dunnen	00428519
0000319424	-	Wilson disease	WND	Familial, autosomal recessive	-	-	8y6m	-	-	Johan den Dunnen	00428520
0000319425	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	11y	-	-	Johan den Dunnen	00428521
0000319426	see paper; ..., abnormality cognition/behavior; no dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428522
0000319427	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	11y6m	-	-	Johan den Dunnen	00428523
0000319428	see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	14y	-	-	Johan den Dunnen	00428524
0000319429	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	16y	-	-	Johan den Dunnen	00428525
0000319430	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	7y7m	-	-	Johan den Dunnen	00428526
0000319431	see paper; ..., normal cognition/behavior; no dystonia; tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	32y	-	-	Johan den Dunnen	00428527
0000319432	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	21y	-	-	Johan den Dunnen	00428528
0000319433	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	7y	-	-	Johan den Dunnen	00428529
0000319434	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	11y	-	-	Johan den Dunnen	00428530
0000319435	see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	21y	-	-	Johan den Dunnen	00428531
0000319436	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y6m	-	-	Johan den Dunnen	00428532
0000319437	see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	12y	-	-	Johan den Dunnen	00428533
0000319438	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	14y	-	-	Johan den Dunnen	00428534
0000319439	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	14y	-	-	Johan den Dunnen	00428535
0000319440	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428536
0000319441	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	14y6m	-	-	Johan den Dunnen	00428537
0000319442	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	15y	-	-	Johan den Dunnen	00428538
0000319443	-	Wilson disease	WND	Familial, autosomal recessive	-	-	12y	-	-	Johan den Dunnen	00428539
0000319444	see paper; ..., abnormality cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	15y	-	-	Johan den Dunnen	00428540
0000319445	see paper; ..., abnormality cognition/behavior; no dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	19y	-	-	Johan den Dunnen	00428541
0000319446	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	19y	-	-	Johan den Dunnen	00428542
0000319447	see paper; ..., abnormality cognition/behavior; no dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y3m	-	-	Johan den Dunnen	00428543
0000319448	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; no Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	8y6m	-	-	Johan den Dunnen	00428544
0000319449	see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428545
0000319450	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	16y	-	-	Johan den Dunnen	00428546
0000319451	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	18y	-	-	Johan den Dunnen	00428547
0000319452	see paper; ..., abnormality cognition/behavior; dystonia; no tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	10y	-	-	Johan den Dunnen	00428548
0000319453	see paper; ..., abnormality cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	13y	-	-	Johan den Dunnen	00428549
0000319454	-	Wilson disease	WND	Familial, autosomal recessive	-	-	18y	-	-	Johan den Dunnen	00428550
0000319455	see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00428551
0000319456	see paper; ..., abnormality cognition/behavior; no dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	23y	-	-	Johan den Dunnen	00428552
0000319457	see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea	Wilson disease	WND	Familial, autosomal recessive	-	-	29y	-	-	Johan den Dunnen	00428553
0000319458	-	Wilson disease	WND	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00428554

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Global Variome shared LOVD

PABPN1 (poly(A) binding protein, nuclear 1)