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
|
0000042997 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Johan den Dunnen |
00054914 |
0000042998 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054925 |
0000049729 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054914 |
0000049730 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054915 |
0000049731 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054916 |
0000049732 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054917 |
0000049733 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054918 |
0000049734 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054919 |
0000049735 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054920 |
0000049736 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054922 |
0000049737 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054923 |
0000049738 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00054924 |
0000049740 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056047 |
0000049741 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056277 |
0000049742 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056280 |
0000049743 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056282 |
0000049744 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056285 |
0000049745 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056287 |
0000049746 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056288 |
0000049747 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056293 |
0000049748 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056294 |
0000049749 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056295 |
0000049750 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056296 |
0000049751 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056299 |
0000049752 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056301 |
0000049753 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056302 |
0000049754 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056304 |
0000049755 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056310 |
0000049756 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056316 |
0000049757 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056318 |
0000049758 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056319 |
0000049759 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00056320 |
0000049760 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057172 |
0000049761 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057237 |
0000049762 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057238 |
0000049763 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057239 |
0000049764 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057240 |
0000049765 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057241 |
0000049766 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057242 |
0000049767 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057243 |
0000049768 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057244 |
0000049769 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057245 |
0000049770 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057246 |
0000049771 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057247 |
0000049772 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057248 |
0000049773 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057258 |
0000049774 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057259 |
0000049775 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057260 |
0000049776 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057261 |
0000049777 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057264 |
0000049778 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057266 |
0000049779 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057268 |
0000049780 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057269 |
0000049781 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057270 |
0000049782 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057272 |
0000049783 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057273 |
0000049784 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057274 |
0000049785 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057275 |
0000049786 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057276 |
0000049787 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057277 |
0000049788 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057278 |
0000049789 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057279 |
0000049790 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057892 |
0000049791 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057893 |
0000049792 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057894 |
0000049793 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057895 |
0000049794 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057896 |
0000049795 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057897 |
0000049796 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057904 |
0000049797 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057907 |
0000049798 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057910 |
0000049799 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057912 |
0000049800 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057913 |
0000049801 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057914 |
0000049802 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057927 |
0000049803 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057928 |
0000049804 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057929 |
0000049805 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057930 |
0000049806 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057931 |
0000049807 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057932 |
0000049808 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057933 |
0000049809 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057934 |
0000049810 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057935 |
0000049811 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057936 |
0000049812 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057937 |
0000049813 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057938 |
0000049814 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057939 |
0000049815 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057940 |
0000049816 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057941 |
0000049817 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057942 |
0000049818 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057943 |
0000049819 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057944 |
0000049820 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057945 |
0000049821 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057946 |
0000049822 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057947 |
0000049823 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00057948 |
0000049824 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00058471 |
0000049825 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00058472 |
0000049826 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00058473 |
0000049827 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Wided Kelmemi |
00058474 |