Phenotypes for disease #05411 (CRDHL (dystrophy, cone-rod, hearing loss (CRDHL)), OMIM:617236)

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.

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

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.

6 entries on 1 page. Showing entries 1 - 6.

Legend

How to query

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000127911	CRD and SNHL	-	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155411
0000127912	CRD and SNHL	-	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155412
0000127913	CRD and SNHL	-	-	Familial, autosomal recessive	-	-	-	-	-	Dror Sharon	00155413
0000250598	cone-rod dystrophy, hearing loss, reduced male fertility	CRDHL	best‐corrected visual acuity hand movements at 1m/hand movements at 1m; Goldmann visual fields oculus dexter et sinister moderately constricted peripheral limits, extensive central, absolute scotoma; fundus imaging oculus dexter et sinister limited outer retinal atrophy in macula up to area nasal to optic disc, severely reduced vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse hypo‐ and hyperautofluorescence; hyperautofluorescent ring around central macula, mottled hypoautofluorescence of retina nasal to optic disc; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐tenth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia	Familial, autosomal recessive	57y	-	20y	-	-	Johan den Dunnen	00269283
0000250599	-	CRDHL	best‐corrected visual acuity 0.2/0.2; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister: mildly reduced rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; acquired, severe color vision deficiency; asthenoteratozoospermia	Familial, autosomal recessive	29y	-	06y	-	-	Johan den Dunnen	00269284
0000250600	-	CRDHL	best‐corrected visual acuity 0.63/0.63; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister normal rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; normal color vision; diabetes type 1	Familial, autosomal recessive	26y	-	06y	-	-	Johan den Dunnen	00332416

Legend

How to query

Global Variome shared LOVD

DAG1 (dystroglycan 1 (dystrophin-associated glycop...))