Phenotypes for disease #04631 (NLS2 (Neu-Laxova syndrome, tyep 2 (NLS-2)), OMIM:616038)

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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

How to query this table

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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'

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14 entries on 1 page. Showing entries 1 - 14.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000227012	HP:0001511, HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0007651, HP:0000518, HP:0000252, HP:0001371, HP:0008064	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295967
0000227014	HP:0001511, HP:0000340, HP:0000369, HP:0000175, HP:0000252, HP:0000252, HP:0001274, HP:0000238, HP:0001371, HP:0100259, HP:0003241	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295968
0000227018	HP:0001511,HP:0000340, HP:0000470, HP:0000377, HP:000369, HP:0012472, HP:0000347, HP:000252, HP:0001302, HP:0007364, HP:00012714, HP:0000238, HP:001371, HP:0001838, HP:0009601, HP:0030084	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295969
0000227019	HP:0001511, HP:0000470,HP:0000377,HP:000369, HP:0000347, HP:0000518, HP:0000492, HP:000252, HP:0001339, HP:0001321, HP:00012714, HP:0002514, HP:0001371, HP:0001838, HP:0001762, HP:0008064, HP:0000951, HP:0002089, HP:0003241	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295970
0000227023	HP:0001511, HP:0001558, HP:0000340, HP:0000470, HP:0000377, HP:0000369,HP:0012472, HP:0000153, HP:0000218, HP:0000347, HP:0000316, HP:0000518, HP:0000482, HP:000252, HP:0002536, HP:0012639, HP:0001274, HP:0001371, HP:0001838, HP:0012210, HP:0000924, HP:0001627, HP:0008064	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295971
0000227188	HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000369, HP:0000153, HP:0012472, HP:0000175, HP:0000347, HP:0000520, HP:0007651, HP:0000252, HP:0001339, HP:0001321, HP:0000238, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0008064, HP:0000951, HP:0200128, HP:0002089, HP:0000062	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295972
0000227189	HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000347, HP:0000252, HP:0001321, HP:0001305, HP:0001371, HP:0001838, HP:0000951, HP:0001195, HP:0012583, HP:0003241, HP:0000062	-	-	Familial, autosomal recessive	-	-	-	-	-	Fatima Abdelfattah	00295973
0000227530	HP:0001511, HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0007651, HP:0000518, HP:0000252, HP:0001371, HP:0008064	-	-	Familial, autosomal recessive	-	-	-	-	p.(Asp2_Met42del)	Fatima Abdelfattah	00300228
0000227533	HP:0000767	-	-	Familial, autosomal recessive	-	-	-	-	p.(Arg61Trp), p.(Ala99Val)	Fatima Abdelfattah	00300231
0000227534	HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0000316, HP:0000520, HP:0007651, HP:0000252, HP:0001339, HP:00012714, HP:0002119, HP:0001331, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0010305, HP:0008064, HP:0001629, HP:0012210, HP:0003241, HP:0000054, HP:0000969	-	-	Familial, autosomal recessive	-	-	-	-	p.(Ala99Val)	Fatima Abdelfattah	00300232
0000227538	HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0007651, HP:0000252, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0008064,HP:0000951, HP:0002089	-	-	Familial, autosomal recessive	-	-	-	-	p.(Ala99Val)	Fatima Abdelfattah	00300236
0000227552	HP:0001511, HP:0000340, HP:0000470, HP:0000347, HP:0000252, HP:0001371, HP:0001838,HP:0000175, HP:0001317, HP:0100679	-	-	Familial, autosomal recessive	-	-	-	-	p.(Arg319Aspfs*14)	Fatima Abdelfattah	00300250
0000227553	HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0000316, HP:0003196, HP:0000463, HP:0000494, HP:0000282, HP:0000520, HP:0007651, HP:0000252, HP:0001371, HP:0001225, HP:0010741, HP:0000951, HP:0000062	-	-	Familial, autosomal recessive	-	-	-	-	P.0?	Fatima Abdelfattah	00300251
0000274659	Microcephaly; coarse face; early death (Multiple systems)	-	Neu-Laxova type 2	Familial	-	-	-	-	-	LOVD	00380806

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How to query

Global Variome shared LOVD