Phenotypes for disease #03186 (CCDS2;GAMTD (deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD))), OMIM:612736)

101 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000060547 Cerebral creatine deficiency syndrome 2 (OMIM:612736) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080978
0000144763 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184633
0000144764 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184634
0000144767 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184637
0000144768 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184638
0000144769 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184639
0000144772 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184642
0000144773 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184643
0000144777 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184647
0000144778 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184648
0000144781 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184651
0000144783 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184653
0000144790 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184660
0000144791 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184661
0000144792 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184662
0000144795 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184665
0000144796 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184666
0000144798 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184668
0000144799 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184669
0000144802 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184672
0000144803 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184673
0000144806 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184676
0000144807 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184677
0000144810 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184680
0000144811 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184681
0000144814 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184684
0000144815 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184685
0000144819 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184689
0000144820 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184690
0000144827 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184697
0000144828 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184698
0000144831 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184701
0000144834 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184704
0000144835 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184705
0000144838 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184708
0000144840 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184710
0000144843 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184713
0000144844 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184714
0000144847 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184717
0000144852 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184722
0000144854 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184724
0000144855 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184725
0000144856 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184726
0000144857 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184727
0000144858 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184728
0000144859 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184729
0000144862 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184732
0000144863 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184733
0000144864 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184734
0000144867 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184737
0000144868 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184738
0000144869 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184739
0000144870 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184740
0000144876 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184746
0000144877 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184747
0000144880 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184750
0000144883 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184753
0000144884 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184754
0000144887 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184757
0000144890 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184760
0000144893 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184763
0000144896 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184766
0000144899 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184769
0000144900 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184770
0000144901 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184771
0000144902 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184772
0000144903 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184773
0000144904 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184774
0000144905 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184775
0000144906 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184776
0000144909 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184779
0000144910 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184780
0000144913 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184783
0000144914 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184784
0000144915 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184785
0000144916 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184786
0000144917 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184787
0000144918 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184788
0000144919 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184789
0000144920 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184790
0000144921 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184791
0000144922 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184792
0000144923 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184793
0000144924 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184794
0000144925 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184795
0000144926 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184796
0000144927 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184797
0000144928 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184798
0000144931 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184801
0000144934 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184804
0000144935 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184805
0000144938 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184808
0000144949 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184819
0000144950 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184820
0000144951 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184821
0000144952 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184822
0000144953 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184823
0000144954 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184824
0000144955 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184825
0000144956 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons 00184826
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