Phenotypes for disease #00567 (JBTS4 (Joubert syndrome, type 4 (JBTS-4)), OMIM:609583)

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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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9 entries on 1 page. Showing entries 1 - 9.

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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
0000310073	nephronophthisis: present; age at end-stage renal disease: 10y; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: present (mild); developmental delay	-	Joubert syndrome	Familial, autosomal recessive	11y	-	-	-	-	LOVD	00418776
0000310074	nephronophthisis: absent; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: not examined; developmental delay	-	Joubert syndrome	Familial, autosomal recessive	8y	-	-	-	-	LOVD	00418777
0000310075	nephronophthisis: present; age at end-stage renal disease: 9y; no retinal dystrophy; oculomotor apraxia: absent; molar tooth sign: present (mild); developmental delay	-	Joubert syndrome	Familial, autosomal recessive	17y	-	-	-	-	LOVD	00418778
0000310076	nephronophthisis: present; age at end-stage renal disease: 12y; no retinal dystrophy; oculomotor apraxia: absent; molar tooth sign: absent; developmental delay	-	Joubert syndrome	Familial, autosomal recessive	15y	-	-	-	-	LOVD	00418779
0000310077	no breathing abnormalities reported during the perinatal period; no gross dysmorphisms; able to sit unassisted at the age of 12m, to pronounce simple words at 16m; to walk at 20m; 3y neurological evaluation: hypotonia, mild psychomotor delay, oculomotor apraxia, and ataxic gait; brain magnetic resonance imaging: molar tooth sign with cerebellar vermis hypoplasia, narrowing of the isthmus and elongation of the superior cerebellar peduncles; first year of life: patient developed mild polyuria; urine analysis: low specific gravity (1006) in the absence of sediment abnormalities or proteinuria; renal ultrasonography and serum creatinine levels: (0.4 mg/ dl) normal; maximal urine osmolarity after water restriction: low (579 mOsm/kg/H2O2; normal values .800 mOsm/kg/H2O2), indicating a reduced urinary concentrating ability; renal biopsy not performed; ophthalmologic assessment: severe visual impairment and retinal pigmentary changes; electroretinogram: significantly delayed and attenuated mainly in its photopic component with present flash visual evoked potentials; liver function tests, a liver ultrasound scan, and a standard karyotype: normal	-	Joubert syndrome	Familial, autosomal recessive	3y	-	-	-	-	LOVD	00418781
0000310079	end-stage renal disease: 9y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic	-	Joubert syndrome	Familial, autosomal recessive	15y	-	8y	-	-	LOVD	00418782
0000310080	end-stage renal disease: creatinine 3 mg%; HD/TX: no/no; urine osmolality: low; kidney size: small/hyperechoic	-	Joubert syndrome	Familial, autosomal recessive	19y	-	12y	-	-	LOVD	00418783
0000310081	end-stage renal disease: 14y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic	-	Joubert syndrome	Familial, autosomal recessive	21y	-	5y	-	-	LOVD	00418784
0000310082	end-stage renal disease: 12y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic	-	Joubert syndrome	Familial, autosomal recessive	29y	-	3y	-	-	LOVD	00418785

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Global Variome shared LOVD