Phenotypes for disease #01077 (DKCX;HHS (dyskeratosis congenita, X-linked (DKCX, Hoyeraal-Hreidarsson syndrome (HHS))), OMIM:305000)

77 entries on 1 page. Showing entries 1 - 77.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000083730 X-linked recessive dyskeratosis congenita - - Unknown - - - - - SIB - Livia Famiglietti 00105827
0000083731 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105828
0000083732 X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105829
0000083733 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105830
0000083734 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105831
0000083735 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105832
0000083736 aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105833
0000083737 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105834
0000083738 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105835
0000083739 X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105836
0000083740 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105837
0000083741 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105838
0000083742 aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105839
0000083743 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105840
0000083744 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105841
0000083745 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105842
0000083746 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105843
0000083747 X-linked recessive dyskeratosis congenita - - Isolated (sporadic) - - - - - SIB - Livia Famiglietti 00105844
0000083748 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105845
0000083749 X-linked recessive dyskeratosis - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105846
0000083750 X-linked recessive dyskeratosis congenita - - Unknown - - - - - SIB - Livia Famiglietti 00105847
0000083751 - - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105848
0000083752 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti 00105849
0000083754 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105851
0000083755 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105852
0000083757 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105854
0000083758 dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105855
0000083759 X-linked recessive dyskeratosis congenita - - Isolated (sporadic) - - - - - Johan den Dunnen 00105856
0000083760 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105857
0000083761 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105858
0000083762 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105859
0000083763 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105860
0000083764 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105861
0000083765 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105862
0000083766 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105863
0000083767 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105864
0000083768 X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105865
0000083769 X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105866
0000083770 hoyeraal hreidarrson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105867
0000083771 dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105868
0000083772 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105869
0000083773 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105870
0000083774 X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105871
0000083775 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105872
0000083776 X-linked recessive dyskeratosis congenita, Hoyeraal Hreidarrson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105873
0000083777 X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome, dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105874
0000083778 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105875
0000083779 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105876
0000083780 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105877
0000083781 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105878
0000083782 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105879
0000083783 Hoyeraal Hreidarrson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105880
0000083784 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105881
0000083785 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105882
0000083786 dyskeratosis congenita and Hoyeraal Hreidarsson syndrome - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105883
0000083787 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105884
0000083788 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105885
0000083789 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105886
0000083790 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105887
0000083791 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105888
0000083792 dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105889
0000083793 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105890
0000083794 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105891
0000083795 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105892
0000083796 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105893
0000083797 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105894
0000083798 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00105895
0000120905 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00148456
0000120906 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00148457
0000120907 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00148458
0000120908 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00148459
0000120909 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00148460
0000120910 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00148461
0000120911 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00148462
0000120912 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00148463
0000120913 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00148464
0000120914 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00148465
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