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/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

 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
| 0000164744 |
atypical mandibuloacral dysplasia and progeroid features |
Werner syndrome |
HGPS |
Isolated (sporadic) |
- |
- |
5y |
- |
- |
Johan den Dunnen |
00216292 |
| 0000164771 |
atypical, short stature (9y), scleroderma-like skin changes, graying/thinning of hair, type 2 diabetes (23y), hypogonadism, osteoporosis, voice changes |
Werner syndrome |
HGPS |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00216319 |
| 0000164813 |
atypical, dilated cardiomyopathy |
Werner syndrome |
HGPS |
Unknown |
- |
23y |
- |
short statrue |
- |
Johan den Dunnen |
00216361 |
| 0000164898 |
diagnosis severe WRN |
Werner syndrome |
HGPS |
Unknown |
- |
13y |
- |
- |
- |
Johan den Dunnen |
00216446 |
| 0000164905 |
atypical WRN (19y), cleroderma-like skin, short stature, graying/thinning of hair, type 2 diabetes (18y) |
Werner syndrome |
HGPS |
Unknown |
- |
- |
- |
- |
- |
Johan den Dunnen |
00216453 |
| 0000164950 |
atypical |
Werner syndrome |
HGPS |
Unknown |
- |
34y |
- |
physically inferior |
- |
Johan den Dunnen |
00216498 |
| 0000165211 |
short stature, progeroid appearance, beaked nose, scleroderma-like skin, premature grayin,d alopecia, atrophic skin, dystrophic nails |
Werner syndrome, atypical |
HGPS |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00216759 |
| 0000165212 |
familial partial lipodystrophy of the Dunnigan type (FPLD2), progeroid features; see paper |
Werner syndrome, atypical |
HGPS |
Isolated (sporadic) |
- |
- |
12y |
short stature |
- |
Johan den Dunnen |
00216760 |
| 0000311241 |
see paper |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00419975 |
| 0000311242 |
see paper |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00419976 |
| 0000311243 |
see paper |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00419997 |
| 0000311246 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420040 |
| 0000311251 |
see paper |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420041 |
| 0000311256 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420042 |
| 0000311279 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420043 |
| 0000311280 |
see paper; ..., unilateral cataract; no skin anomalies; no facial features; no short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; neoplasms; voice change; flat feet |
Werner syndrome |
WRN |
Familial, autosomal recessive |
68y |
- |
- |
- |
- |
Johan den Dunnen |
00420044 |
| 0000311281 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420045 |
| 0000311284 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420047 |
| 0000311320 |
see paper; ...; cataracts; skin anomalies; facial features; no short stature; greying or loss of hair; no diabetes mellitus; hypogonadism; osteoporosis; no osteosclerosis; no soft tissue calcification; no atherosclerosis; no neoplasms; voice change; no flat fee |
Werner syndrome |
WRN |
Familial, autosomal recessive |
42y |
- |
- |
- |
- |
Johan den Dunnen |
00420085 |
| 0000311322 |
see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; hypogonadism; osteoporosis; osteosclerosis; soft tissue calcification; atherosclerosis; neoplasms; voice change; flat feet |
Werner syndrome |
WRN |
Familial, autosomal recessive |
45y |
- |
- |
- |
- |
Johan den Dunnen |
00420087 |
| 0000311324 |
see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; hypogonadism; osteoporosis; soft tissue calcification; voice change; flat feet |
Werner syndrome |
WRN |
Familial, autosomal recessive |
38y |
- |
- |
- |
- |
Johan den Dunnen |
00420088 |
| 0000311325 |
see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; atherosclerosis; no neoplasms; voice change; flat feet |
Werner syndrome |
WRN |
Familial, autosomal recessive |
<50y |
- |
- |
- |
- |
Johan den Dunnen |
00420089 |
| 0000311326 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420090 |
| 0000311327 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420091 |
| 0000311328 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420092 |
| 0000311610 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420342 |
| 0000311611 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420343 |
| 0000311612 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420344 |
| 0000311613 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420345 |
| 0000311614 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420346 |
| 0000311615 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420347 |
| 0000311616 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420348 |
| 0000311617 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420349 |
| 0000311618 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420350 |
| 0000311619 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420351 |
| 0000311620 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420352 |
| 0000311621 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420353 |
| 0000311622 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420354 |
| 0000311623 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420355 |
| 0000311624 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420356 |
| 0000311625 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420357 |
| 0000311626 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420358 |
| 0000311627 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420359 |
| 0000311628 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420360 |
| 0000311629 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420361 |
| 0000311630 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420362 |
| 0000311631 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420363 |
| 0000311632 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420364 |
| 0000311633 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420365 |
| 0000311634 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420366 |
| 0000311635 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420367 |
| 0000311845 |
bird-like face, a high-pitched voice, baldness, leg ulcers |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420597 |
| 0000311846 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420598 |
| 0000311847 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420599 |
| 0000311848 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420600 |
| 0000311849 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420601 |
| 0000311850 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420602 |
| 0000311851 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420603 |
| 0000311852 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420604 |
| 0000311853 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420605 |
| 0000311854 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420606 |
| 0000311855 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420607 |
| 0000311856 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420608 |
| 0000311857 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420609 |
| 0000311858 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420610 |
| 0000311859 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420611 |
| 0000311860 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420612 |
| 0000311861 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420613 |
| 0000311862 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420614 |
| 0000311863 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420615 |
| 0000311864 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420616 |
| 0000311865 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420617 |
| 0000311866 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420618 |
| 0000311867 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420619 |
| 0000311868 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420620 |
| 0000311869 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420621 |
| 0000311870 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420622 |
| 0000311871 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420623 |
| 0000311872 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420624 |
| 0000311873 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420625 |
| 0000311874 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420626 |
| 0000311875 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420627 |
| 0000311876 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420628 |
| 0000311877 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420629 |
| 0000311878 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420630 |
| 0000311879 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420631 |
| 0000311880 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420632 |
| 0000311881 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420633 |
| 0000311882 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420634 |
| 0000311883 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420635 |
| 0000311884 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420636 |
| 0000311885 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420637 |
| 0000311886 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420638 |
| 0000311887 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420639 |
| 0000311888 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420640 |
| 0000311889 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420641 |
| 0000311890 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420642 |
| 0000311891 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420643 |
| 0000311892 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420644 |
| 0000311893 |
- |
Werner syndrome |
WRN |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00420645 |