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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

195 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

ACTN1 (actinin, alpha 1)