Phenotypes for disease #02412 (SPCH (speech-language disorder (SPCH)))

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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
	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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19 entries on 1 page. Showing entries 1 - 19.

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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
0000210461	childhood apraxia of speech; late onset language use; IQ below average; gross or fine motor impairment; oral nonverbal motor impairment	childhood apraxia of speech	-	Unknown	9y	-	-	-	-	Johan den Dunnen	00275861
0000210462	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ lower extreme; oral expression scales standard scores <85; gross or fine motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	16y	-	-	-	-	Johan den Dunnen	00275862
0000210463	childhood apraxia of speech; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; no dysarthria	childhood apraxia of speech	-	Unknown	7y	-	-	-	-	Johan den Dunnen	00275863
0000210464	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	6y	-	-	-	-	Johan den Dunnen	00275864
0000210465	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; oral expression scales standard scores <85; no dysarthria	childhood apraxia of speech	-	Unknown	19y	-	-	-	-	Johan den Dunnen	00275865
0000210466	childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; oral expression scales standard scores <85; gross or fine motor impairment;	childhood apraxia of speech	-	Unknown	5y	-	-	-	-	Johan den Dunnen	00275866
0000210467	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ lower extreme; oral expression scales standard scores <85; gross or fine motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	7y	-	-	-	-	Johan den Dunnen	00275867
0000210468	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; oral expression scales standard scores <85; gross or fine motor impairment;	childhood apraxia of speech	-	Unknown	3y	-	-	-	-	Johan den Dunnen	00275868
0000210469	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; oral expression scales standard scores <85; no gross or fine motor impairment; no dysarthria	childhood apraxia of speech	-	Unknown	4y	-	-	-	-	Johan den Dunnen	00275869
0000210470	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores <85; no gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	11y	-	-	-	-	Johan den Dunnen	00275870
0000210471	childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	10y	-	-	-	-	Johan den Dunnen	00275871
0000210472	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; no dysarthria	childhood apraxia of speech	-	Unknown	6y	-	-	-	-	Johan den Dunnen	00275872
0000210473	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; mild intelletual disability IQ<70; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	12y	-	-	-	-	Johan den Dunnen	00275873
0000210474	childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	7y	-	-	-	-	Johan den Dunnen	00275874
0000210475	childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; no dysarthria	childhood apraxia of speech	-	Unknown	4y	-	-	-	-	Johan den Dunnen	00275875
0000210476	childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; no dysarthria	childhood apraxia of speech	-	Unknown	4y	-	-	-	-	Johan den Dunnen	00275876
0000210477	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ below average; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	7y	-	-	-	-	Johan den Dunnen	00275877
0000210478	childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ lower extreme; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria	childhood apraxia of speech	-	Unknown	12y	-	-	-	-	Johan den Dunnen	00275878
0000210479	childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment	childhood apraxia of speech	-	Unknown	6y	-	-	-	-	Johan den Dunnen	00275879

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Global Variome shared LOVD