Phenotypes for disease #05130 (CSNB (blindness, night, stationary, congenital (CSNB)))

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.

98 entries on 1 page. Showing entries 1 - 98.

Legend

How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000045220	Riggs type of electroretinogram	-	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00058628
0000045221	Riggs type of electroretinogram	-	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00058629
0000050871	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00064671
0000050872	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00064672
0000050873	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00064673
0000067351	-	-	-	Unknown	-	-	-	-	-	SIB - Livia Famiglietti	00087820
0000067352	-	-	-	Unknown	-	-	-	-	-	SIB - Livia Famiglietti	00087821
0000067353	-	-	-	Unknown	-	-	-	-	-	SIB - Livia Famiglietti	00087822
0000067354	-	-	-	Unknown	-	-	-	-	-	SIB - Livia Famiglietti	00087823
0000067644	BCVA - 0.48 LogMAR Rotary Nystagmus	-	-	Familial, X-linked	-	-	-	-	-	Mervyn Thomas	00088177
0000067646	BCVA 0.30 Horizontal Jerk nystagmus	-	-	Familial, X-linked	-	-	-	-	-	Mervyn Thomas	00088180
0000074237	-	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00095957
0000078324	-	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00100084
0000078329	-	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00100090
0000078334	-	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00100095
0000078335	-	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00100096
0000128053	-	CSNB	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155553
0000128054	-	CSNB	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155554
0000128055	-	CSNB	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155555
0000128056	-	CSNB	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155556
0000186420	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246569
0000186421	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246570
0000186422	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246571
0000186423	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246572
0000186424	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246573
0000186425	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246574
0000186426	see paper; …	incomplete congenital stationary night blindness	CSNB-2A	Familial, X-linked recessive	-	-	-	-	-	Christina Zeitz	00246575
0000186445	see paper; ...	congenital stationary night blindness	CSNBAD-3	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246588
0000186446	see paper; ...	congenital stationary night blindness	CSNB-1G	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246589
0000186447	see paper; ..., lifelong night-blindness, significant pigmentary disturbance, constriction of visual fields (retinitis pigmentosa)	night blindness	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246590
0000186448	see paper; ...	congenital stationary night blindness	CSNB-1F	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246591
0000186449	see paper; ...	congenital stationary night blindness	CSNB-1F	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246592
0000186450	see paper; ...	congenital stationary night blindness	CSNB-1F	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246593
0000186451	see paper; ...	congenital stationary night blindness	CSNBAD-2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246594
0000186452	see paper; ...	congenital stationary night blindness	CSNBAD-2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246595
0000186456	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246599
0000186457	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246600
0000186458	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246601
0000186459	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246602
0000186460	hyperhomocysteinemia, dural sinus thrombosis, thrombocytopenia, systemic lupus erythematosus	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00246602
0000186461	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	07y	-	-	-	-	Johan den Dunnen	00246603
0000186462	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246604
0000186463	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246605
0000186464	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246606
0000186465	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246607
0000186466	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246608
0000186467	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246609
0000186503	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246656
0000186504	see paper; ...	congenital stationary night blindness	CSNBO-1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246657
0000186505	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246658
0000186506	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246659
0000186507	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246660
0000186508	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246661
0000186509	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246662
0000186510	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246663
0000186511	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246664
0000186512	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246665
0000186513	see paper; …	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246666
0000186514	see paper; 1 patient with retinitis pigmentosa, 2 with Oguchi’s disease	congenital stationary night blindness	CSNBO-1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246667
0000186515	see paper; ...	congenital stationary night blindness	CSNBAD-1	Unknown	34y	-	-	-	-	Johan den Dunnen	00246668
0000186516	see paper; ...	congenital stationary night blindness	CSNBAD-1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246669
0000186517	see paper; ...	congenital stationary night blindness	CSNBAD-1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246670
0000186518	see paper; ...	congenital stationary night blindness	CSNB-2B	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246671
0000186519	see paper; ...	severe combined immunodeficiency	CSNB-2B	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00246672
0000186520	see paper; ...	congenital stationary night blindness	CSRD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246673
0000186522	see paper; …	congenital stationary night blindness	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246676
0000186523	see paper; …	congenital stationary night blindness	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246677
0000186524	see paper; …	congenital stationary night blindness	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246678
0000186525	see paper; ...	severe combined immunodeficiency	CSNB-2B	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00246679
0000254130	see paper; ..., Schubert-Bornschein congenital stationary night blindness	Schubert-Bornschein congenital stationary night blindness	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00358872
0000273605	HP:0030515, HP:0001123, HP:0000639, HP:0000662	blindness, night, stationary, congenital (CSNB)	-	Familial, X-linked recessive	-	-	-	-	-	Jinu Han	00379751
0000306633	-	CSNB	-	Familial, X-linked recessive	22y	-	-	-	-	Srilekha Sundar	00414834
0000306638	-	CSNB	CSNB	Familial, X-linked recessive	05y	05y	-	5y	-	Srilekha Sundar	00414839
0000306847	-	CSNB	CSNB	Familial, autosomal recessive	47y	47y	10y	-	-	Srilekha Sundar	00415046
0000306887	-	?CSNB ?Oguchi	CSNB	Familial, autosomal recessive	09y	09y	-	-	-	Srilekha Sundar	00415086
0000306888	-	CSNB	CSNB	Familial, autosomal recessive	05y	05y	-	-	-	Srilekha Sundar	00415087
0000306967	CSNB	CSNB	CSNB	Familial, autosomal recessive	10y	35y	-	-	-	Srilekha Sundar	00415167
0000306968	CSNB	CSNB	CSNB	Familial, autosomal recessive	14y	14y	-	-	-	Srilekha Sundar	00415168
0000306974	CSNB	CSNB	CSNB	Familial, autosomal recessive	06y	06y	-	6y	-	Srilekha Sundar	00415175
0000309197	see paper; ..., night blindness, bilateral high myopia	night blindness, bilateral high myopia	-	Familial, X-linked recessive	15y	-	-	-	-	Alessandra Mihalich	00417829
0000325337	-	CSNB	CSNB	Familial, autosomal recessive	-	-	-	-	-	Srilekha Sundar	00435099
0000333477	see paper; ..., no strabismus, no nystagmus	congenital stationary night blindness	-	Familial, autosomal recessive	21y	-	1y	-	-	Johan den Dunnen	00444224
0000333478	see paper; ..., no strabismus, no nystagmus	congenital stationary night blindness	CSNBAD3	Familial, autosomal dominant	9y	-	8y	-	-	Johan den Dunnen	00444225
0000333479	see paper; ..., no strabismus, 3-4 Hz pendualr left beating jerk bilateral symmetric nystagmus	congenital stationary night blindness	CSNB1A	Familial, X-linked recessive	3y	-	1y	-	-	Johan den Dunnen	00444226
0000333480	see paper; ..., strabismus, no nystagmus	congenital stationary night blindness	CSNB1A	Familial, X-linked recessive	5y	-	4y	-	-	Johan den Dunnen	00444227
0000333481	see paper; ..., no strabismus, gaze evoked nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	3y	-	1y	-	-	Johan den Dunnen	00444228
0000333482	see paper; ..., strabismus, 3-4 Hz /right/left beating jerk bilateral symmetric nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	3y	-	1y	-	-	Johan den Dunnen	00444229
0000333483	see paper; ..., strabismus, 5 Hz small amplitude pendular nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	3y	-	1y	-	-	Johan den Dunnen	00444230
0000333484	see paper; ..., no strabismus, 4 Hz fine amplitude pendular nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	3y	-	2y	-	-	Johan den Dunnen	00444231
0000333485	see paper; ..., strabismus, no nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	3y	-	2y	-	-	Johan den Dunnen	00444232
0000333486	see paper; ..., no strabismus, 3-4 Hz left beating jerk bilateral symmetric nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	4y	-	1y	-	-	Johan den Dunnen	00444233
0000333487	see paper; ..., strabismus, no nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	4y	-	2y	-	-	Johan den Dunnen	00444234
0000333488	see paper; ..., no strabismus, gaze evoked nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	5y	-	4y	-	-	Johan den Dunnen	00444235
0000333489	see paper; ..., strabismus, 3 Hz upbeat jerk bilateral symmetric nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	5y	-	1y	-	-	Johan den Dunnen	00444236
0000333490	see paper; ..., no strabismus, gaze evoked nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	7y	-	4y	-	-	Johan den Dunnen	00444237
0000333491	see paper; ..., no strabismus, no nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	9y	-	6y	-	-	Johan den Dunnen	00444238
0000333492	see paper; ..., no strabismus, no nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	10y	-	8y	-	-	Johan den Dunnen	00444239
0000333493	see paper; ..., no strabismus, gaze evoked nystagmus	congenital stationary night blindness	CSNB2A	Familial, X-linked	13y	-	6y	-	-	Johan den Dunnen	00444240

Legend

How to query

Global Variome shared LOVD