Phenotypes for disease #00876 (JBTS14 (Joubert syndrome, type 14 (JBTS-14)), OMIM:614424)

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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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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
0000092955	encephalocele;cystic kidney;	-	-	Familial, autosomal recessive	02d	-	-	-	-	Lijia Huang	00117485
0000092956	molar tooth sign; posterior fossa abnormality; hydrocephalus; cystic kidney; nystagmus; strabismus; optic atrophy	-	-	Familial, autosomal recessive	08y	-	-	-	-	Lijia Huang	00117486
0000092957	molar tooth sign; posterior fossa abnormality; hydrocephalus; encephalocele; cystic kidney; Nystagmus; strabismus	-	-	Familial, autosomal recessive	07y	-	-	-	-	Lijia Huang	00117487
0000092958	cerebellar vermis hypoplasia; nystagmus; strabismus	-	-	Familial, autosomal recessive	28y	-	-	-	-	Lijia Huang	00117488
0000092959	cerebellar vermis hypoplasia; nystagmus; strabismus	-	-	Familial, autosomal recessive	12y	-	-	-	-	Lijia Huang	00117489
0000092960	molar tooth sign; nystagmus; strabismus; coloboma;intracranial bleed	-	-	Familial, autosomal recessive	12y	-	-	-	-	Lijia Huang	00117490
0000092961	encephalocele; hydrocephalus; cystic kidney; cleft palate	-	-	Familial, autosomal recessive	00d	-	-	-	-	Lijia Huang	00117491
0000092962	hydrocephalus; cystic kidney;postaxial polydactyly	-	-	Familial, autosomal recessive	02d	-	-	-	-	Lijia Huang	00117492
0000092963	molar tooth sign; encephalocele; cystic kidney; nystagmus; strabismus; coloboma; ventricular septal defect	-	-	Familial, autosomal recessive	09y	-	-	-	-	Lijia Huang	00117493
0000092964	encephalocele; hydrocephalus; Dandy-Walker variant; cystic kidney; nystagmus; strabismus	-	-	Familial, autosomal recessive	13m	-	-	-	-	Lijia Huang	00117494
0000092965	molar tooth sign; posterior fossa abnormality; cystic kidney; nystagmus; strabismus	-	-	Familial, autosomal recessive	08y	-	-	-	-	Lijia Huang	00117495
0000092966	molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney	-	-	Familial, autosomal recessive	21d	-	-	-	-	Lijia Huang	00117496
0000092967	molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney; nystagmus	-	-	Familial, autosomal recessive	03m	-	-	-	-	Lijia Huang	00117497
0000092968	molar tooth sign; Dandy-Walker variant; hydrocephalus; cystic kidney; nystagmus	-	-	Familial, autosomal recessive	-	-	-	-	-	Lijia Huang	00117498
0000092969	molar tooth sign; hydrocephalus; posterior fossa abnormality; cortical visual impairment; cystic kidney; nystagmus; strabismus	-	-	Familial, autosomal recessive	04y	-	-	-	-	Lijia Huang	00117499
0000092970	cerebellar vermis aplasia; cystic kidney; morning glory disc anomaly;	-	-	Familial, autosomal recessive	04y	-	-	-	-	Lijia Huang	00117500
0000092971	hydrocephalus; cerebellar vermis aplasia; corpus callosum hypoplasia; meningocele; cystic kidney; morning glory disc anomaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Lijia Huang	00117501
0000092972	cerebellar vermis aplasia; brain stem hypoplasia; cystic kidney; nystagmus; morning glory disc anomaly	-	-	Familial, autosomal recessive	11y	-	-	-	-	Lijia Huang	00117502
0000092974	meningomyelocele; cortical visual impairment	-	-	Familial, autosomal recessive	-	-	-	-	-	Lijia Huang	00117504

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Global Variome shared LOVD