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.
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/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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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.
|
Legend |
How to query |

 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000085336 |
broad forehead (HP:0000337), euryblepharon (HP:0012905), lagophthalmos (HP:0030001), ectropion (HP:0000656), CL/P bilateral (HP:0000202), abnormal crown form (HP:?), everted lower lip (HP:0000232), sparse hair (HP:0008070), sclerocornea ODS (HP:0000647), hirsutism forehead (HP:0011335) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00106657 |
0000087131 |
-HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; ?HP:0000696; ?HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Unknown |
- |
- |
- |
- |
Sanne Savelberg |
00110525 |
0000087132 |
-HP:0002342; -HP:0000337; HP:0009890; -HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126 |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110512 |
0000087133 |
-HP:0002342; -HP:0000337; HP:0009890; HP:0000316; -HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Unknown |
- |
- |
- |
- |
Sanne Savelberg |
00110513 |
0000087134 |
HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110514 |
0000087135 |
-HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110508 |
0000087136 |
-HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110509 |
0000087137 |
HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; HP:0030084; HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110523 |
0000087138 |
-HP:0002342; HP:0000337; HP:0009890; -HP:0000316; HP:0012905; HP:0030001; -HP:0000656; HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0025247 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110524 |
0000087139 |
-HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0011800 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110531 |
0000087140 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0000202; HP:0000668; HP:0011077; HP:0000303; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0002023; -HP:0000821; HP:0045005; -HP:0012126; |
- |
- |
Unknown |
- |
- |
- |
- |
Sanne Savelberg |
00110532 |
0000087141 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0000579; HP:0000202; HP:0000668; HP:0011077; HP:0000232; HP:0000303; HP:0000377; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0002023; HP:0000821; HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110533 |
0000087142 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0009755; HP:0000668; HP:0000696; HP:0000232; HP:0000303; -HP:0008070; -HP:0001792; -HP:0000951; HP:0002023; HP:0000821; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110534 |
0000087143 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; ?HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0000653; HP:0002236 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110515 |
0000087144 |
-HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; HP:0000232; -HP:0000377; HP:0001159; HP:0008070; HP:0001792; HP:0002023; ?HP:0012126; |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110527 |
0000087145 |
HP:0000316; HP:0012905; HP:0030001; HP:0000656; HP:0009743; HP:0000202; HP:0000668; HP:0000696; HP:0011077; HP:0000232; ?HP:0012126; |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110528 |
0000087146 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; ?HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0000410 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110526 |
0000087147 |
-HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; -HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0002650 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110510 |
0000087148 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110516 |
0000087149 |
-HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110517 |
0000087150 |
-HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110518 |
0000087151 |
-HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110519 |
0000087152 |
-HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Unknown |
- |
- |
- |
- |
Sanne Savelberg |
00110520 |
0000087153 |
-HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; -HP:0012905; -HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
Sanne Savelberg |
00110521 |
0000087154 |
-HP:0002342; HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110522 |
0000087155 |
-HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0010116 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
Sanne Savelberg |
00110511 |
0000087156 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0000232; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0045005; ?HP:0012126; |
- |
- |
Unknown |
- |
- |
- |
- |
Sanne Savelberg |
00110529 |
0000087157 |
-HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0000232; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0045005; ?HP:0012126; |
- |
- |
Unknown |
- |
- |
- |
- |
Sanne Savelberg |
00110530 |
0000187837 |
cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; syndactyly (1/2); no anal atresia; no neural tube defect; no hypothyroidism |
blepharocheilodontic syndrome |
BCDS-2 |
Unknown |
- |
- |
- |
- |
Johan den Dunnen |
00248870 |
0000187838 |
cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism |
blepharocheilodontic syndrome |
BCDS-2 |
Isolated (sporadic) |
- |
- |
- |
- |
Johan den Dunnen |
00248871 |
0000187839 |
cleft lip/palate (1/2); eyelid anomalies ectropion (2/2), euryblepharon (1/2), lagophthalmy (1/2), distichiasis (1/2); hair anomalies (1/2); conical teeth (2/2); tooth agenesis (2/2); no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism |
blepharocheilodontic syndrome |
BCDS-2 |
Familial, autosomal dominant |
- |
- |
- |
- |
Johan den Dunnen |
00248872 |
0000187841 |
no cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; choanal atresia; no syndactyly; anal atresia; no neural tube defect; hypothyroidism |
blepharocheilodontic syndrome |
BCDS-1 |
Unknown |
- |
- |
- |
- |
Johan den Dunnen |
00248874 |
0000187842 |
cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; no hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism |
blepharocheilodontic syndrome |
BCDS-1 |
Isolated (sporadic) |
- |
- |
- |
- |
Johan den Dunnen |
00248875 |
0000187843 |
cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); conical teeth (2/2); tooth agenesis (2/2); nail dysplasia (2/2); no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; neural tube defect (2/2); no hypothyroidism |
blepharocheilodontic syndrome |
BCDS-1 |
Isolated (sporadic) |
- |
- |
- |
- |
Johan den Dunnen |
00248877 |
0000187844 |
cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); no conical teeth; tooth agenesis (2/2); nail dysplasia (1/2); vertex aplasia (2/2); no choanal atresia; syndactyly (1/2); anal atresia (1/2); no neural tube defect; no hypothyroidism |
blepharocheilodontic syndrome |
BCDS-1 |
Familial, autosomal dominant |
- |
- |
- |
- |
Johan den Dunnen |
00248878 |
0000187845 |
cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism |
blepharocheilodontic syndrome |
BCDS-1 |
Unknown |
- |
- |
- |
- |
Johan den Dunnen |
00248880 |
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