Phenotypes for disease #00343 (EPD (epilepsy, pyridoxine-dependent (EPD)), OMIM:266100)

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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

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191 entries on 2 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000014923	-	-	-	Unknown	-	-	-	-	-	Lab Zuffardi	00016318
0000014924	-	-	-	Unknown	-	-	-	-	-	Lab Zuffardi	00016319
0000060471	Epilepsy, pyridoxine-dependent (OMIM:266100)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080902
0000060553	Epilepsy, pyridoxine-dependent (OMIM:266100)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080984
0000104269	-	-	-	Unknown	-	-	-	-	-	Nicolai Kohlschmidt	00079991
0000129736	HP:0000098, HP:0001166, HP:0001724, HP:0001382	-	-	Familial, autosomal recessive	-	-	-	-	-	Eveline Boudin	00164697
0000184839	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244877
0000184840	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244878
0000184841	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244879
0000184842	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244880
0000184843	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244881
0000184844	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244882
0000184845	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244883
0000184846	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244884
0000184847	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244885
0000184848	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244886
0000184849	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244887
0000184850	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244888
0000184851	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244889
0000184852	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244890
0000184853	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244891
0000184854	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244892
0000184855	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244893
0000184856	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244894
0000184857	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244895
0000184858	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244896
0000184859	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244897
0000184860	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244898
0000184861	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244899
0000184862	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244900
0000184863	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244901
0000184864	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244902
0000184865	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244903
0000184866	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244904
0000184867	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244905
0000184868	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244906
0000184869	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244907
0000184870	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244908
0000184871	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244909
0000184872	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244910
0000184873	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244911
0000184874	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244912
0000184875	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244913
0000184876	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244914
0000184877	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244915
0000184878	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244916
0000184879	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244917
0000184880	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244918
0000184881	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244919
0000184882	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244920
0000184883	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244921
0000184884	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244922
0000184885	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244923
0000184886	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244924
0000184887	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244925
0000184888	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244926
0000184889	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244927
0000184890	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244928
0000184891	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244929
0000184892	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244930
0000184893	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244931
0000184894	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244932
0000184895	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244933
0000184896	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244934
0000184897	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244935
0000184898	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244936
0000184899	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244937
0000184900	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244938
0000184901	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244939
0000184902	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244940
0000184903	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244941
0000184904	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244942
0000184905	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244943
0000184906	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244944
0000184907	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244945
0000184908	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244946
0000184909	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244947
0000184910	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244948
0000184911	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244949
0000184912	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244950
0000184913	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244951
0000184914	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244952
0000184915	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244953
0000184916	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244954
0000184917	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244955
0000184918	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244956
0000184919	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244957
0000184920	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244958
0000184921	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244959
0000184922	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244960
0000184923	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244961
0000184924	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244962
0000184925	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244963
0000184926	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244964
0000184927	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244965
0000184928	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244966
0000184929	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244967
0000184930	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244968
0000184931	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244969
0000184932	-	pyridoxine-dependent epilepsy	PDE	Familial, autosomal recessive	-	-	-	-	-	Curtis Coughlin II	00244970

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