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
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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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|
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
|
0000021583 |
Warsaw breakage syndrome |
WABS |
no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; bulbous nose; seizures; lung abnormality; diabetes mellitus; hypotelorism |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Najim Ameziane |
00025472 |
0000021585 |
Warsaw breakage syndrome |
WABS |
microcephaly; sensorineural hearing loss; postnatal growth restriction; retrognathia; congenital hypothyroidism; broncho-obstructive episodes |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Najim Ameziane |
00025473 |
0000021586 |
Warsaw breakage syndrome |
WABS |
microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; no small/dysplastic ears; brain abnormalities; congenital hypothyroidism; short neck; single palmar crease; high-arched palate; lung abnormality |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Najim Ameziane |
00025474 |
0000291059 |
Warsaw breakage syndrome |
WABS |
microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; brain abnormalities; short neck; single palmar crease; high-arched palate |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Najim Ameziane |
00397931 |
0000291060 |
Warsaw breakage syndrome |
WABS |
no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; no retrognathia; sloping/small forehead; clinodactily; no bulbous nose; cochlear abnormalities; small nares; short neck; single palmar crease; no syndactyly; no heart abnormality; hypotonia |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00000200 |
0000291061 |
Warsaw breakage syndrome |
WABS |
no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; tetraology of Fallot |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397932 |
0000291062 |
Warsaw breakage syndrome |
WABS |
no family history miscarriages; microcephaly; sensorineural hearing loss; postnatal growth restriction; intellectual disability; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; no heart abnormality |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397933 |
0000291063 |
Warsaw breakage syndrome |
WABS |
see paper; ..., family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; congenital hypothyroidism; no seizures; syndactyly; patent ductus arteriosus; feeding problems; multicystic kidney |
Familial, autosomal recessive |
13y |
- |
- |
- |
- |
Johan den Dunnen |
00397934 |
0000291064 |
Warsaw breakage syndrome |
WABS |
see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; no congenital hypothyroidism; syndactyly; ventricular septal defect; high-arched palate |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397936 |
0000291066 |
Warsaw breakage syndrome |
WABS |
family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; no small nares; brain abnormalities; pulmonary hypoplasia; kidney dysplasia |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397938 |
0000291067 |
Warsaw breakage syndrome |
WABS |
family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397939 |
0000291068 |
Warsaw breakage syndrome |
WABS |
see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397940 |
0000291069 |
Warsaw breakage syndrome |
WABS |
see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs, small fibulae; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397941 |
0000291070 |
Warsaw breakage syndrome |
WABS |
see paper; ..., family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; brain abnormalities; seizures; syndactyly; no heart abnormality; no hypotonia |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397942 |
0000291071 |
Warsaw breakage syndrome |
WABS |
see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; small nares; small/dysplastic ears; brain abnormalities; syndactyly; patent ductus arteriosus, atrial septal defect; hypotonia; no kidney abnormality; |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397943 |
0000291072 |
Warsaw breakage syndrome |
WABS |
see paper; ..., no family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; talipes equino varus; syndactyly; ventricular septal defect; no hypotonia |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397944 |
0000291073 |
Warsaw breakage syndrome |
WABS |
see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; brain abnormalities; craniosynostosis; no heart abnormality; no hypotonia; no kidney abnormality |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397945 |
0000291074 |
Warsaw breakage syndrome |
WABS |
see paper; ..., no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; small nares; small/dysplastic ears; brain abnormalities; no heart abnormality; no hypotonia; no kidney abnormality; |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397946 |
0000291075 |
Warsaw breakage syndrome |
WABS |
see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; no intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397947 |
0000291076 |
Warsaw breakage syndrome |
WABS |
see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; bilateral shortening first metacarpal bone |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397948 |
0000291077 |
Warsaw breakage syndrome |
WABS |
see paper; ..., family history malignancy; no family history miscarriages; microcephaly; sensorineural hearing loss; abnormal placenta; postnatal growth restriction; intellectual disability; no skin abnormalities; clinodactily; bilateral limitation extension elbow; congenital hypothyroidism; seizures; no heart abnormality; high-arched palate, narrow palate; no feeding problems; diabetes mellitus; no kidney abnormality; hypotelorism |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397949 |
0000291078 |
Warsaw breakage syndrome |
WABS |
see paper; ..., family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; cochlear abnormalities; brain abnormalities; dislocation elbow; congenital hypothyroidism; seizures; systolic murmur; high-arched palate; feeding problems; no diabetes mellitus |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00397950 |
|
Legend |
How to query |