Disease #03186

Official abbreviation CCDS-2;GAMTD
Name deficiency, cerebral creatine, syndrome, type 2 (CCDS-2, guanidinoacetate methyltransferase deficiency (GAMTD))
OMIM ID 612736
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 101
Phenotype entries for this disease 101
Associated with 1 gene GAMT
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

101 entries on 2 pages. Showing entries 1 - 100.
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00080978 - Trujillano et al., submitted unaffected parents - - - - - 0 - - CCDS-2;GAMTD Cerebral creatine deficiency syndrome 2 (OMIM:612736) GAMT GAMT 1 1 Daniel Trujillano
00184633 - PubMed: Item 2004 - M - Germany - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184634 - PubMed: Item 2004 - F - Germany - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184637 - PubMed: Item 2004 - - - Germany - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184638 - PubMed: Item 2004 - M - Germany - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184639 - PubMed: Item 2004 - F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184642 - PubMed: Item 2004 - F - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184643 - PubMed: Item 2004 - M - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184647 - Mahmutoglu et al, in preparation - M - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184648 - Mahmutoglu et al, in preparation - F - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184651 - PubMed: Cheillan 2012 - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184653 - Mahmutoglu et al, in preparation - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184660 - PubMed: Caldeira Araujo 2005, Mahmutoglu et al, in preparation - F - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184661 - PubMed: Almeida 2007 - M - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184662 - PubMed: Almeida 2007 - M - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184665 - PubMed: Almeida 2007 - F - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184666 - PubMed: Item 2004 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184668 - PubMed: Almeida 2007 - M - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184669 - PubMed: Almeida 2007 - M - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184672 - PubMed: Almeida 2007 - M - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184673 - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184676 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184677 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184680 - PubMed: Almeida 2007 - F - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184681 - PubMed: Item 2004 - F - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184684 - PubMed: Almeida 2007 - F - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184685 - PubMed: Almeida 2007 - F - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184689 - PubMed: Almeida 2007 - M - Portugal - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184690 - PubMed: Carducci 2000 - M - Germany - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184697 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - F - Ireland - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184698 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - F - Ireland - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184701 - PubMed: Item 2004 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184704 - Mahmutoglu et al, in preparation - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184705 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184708 - PubMed: Morris 2006 - F - United Kingdom (Great Britain) - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184710 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184713 - PubMed: Item 2004 - F - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184714 - PubMed: Item 2004 - F - United States - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184717 - Mahmutoglu et al, in preparation - F - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184722 - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184724 - PubMed: Caldeira Araujo 2005, Mahmutoglu et al, in preparation - M - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184725 - PubMed: Cheillan 2012 - F - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184726 - PubMed: Item 2004 - F - Canada - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184727 - PubMed: Sempere 2009 - M - Spain - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184728 - PubMed: Item 2004 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184729 - Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184732 - PubMed: Dhar 2009 - M - Canada - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184733 - PubMed: Dhar 2009 - F - Canada - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184734 - PubMed: Item 2004 - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184737 - Mahmutoglu et al, in preparation - F - United Kingdom (Great Britain) - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184738 - PubMed: Sempere 2009 - M - Turkey - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184739 - PubMed: Item 2004 - F - Norway - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184740 - PubMed: Item 2004 - M - Switzerland - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184746 - PubMed: Item 2004 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184747 - PubMed: Item 2004 Patient no 12 in Item et al, 2004 - - Egypt - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184750 - PubMed: Mercimek-Mahmutoglu 2006 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184753 - PubMed: Item 2004 Patient no 7 in Item et al, 2004 F - - Kosovo - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184754 - PubMed: Item 2004 Patient no 8 in Item et al, 2004 F - - Kosovo - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184757 - PubMed: Item 2004 Patient no 9 in Item et al, 2004 - - Turkey - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184760 - PubMed: Item 2004 Patient no 10 in Item et al, 2004 - - Turkey - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184763 - PubMed: Item 2004 Patient no 11 in Item et al, 2004 - - Spain - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184766 - PubMed: Item 2004 Patient no 13 in Item et al, 2004 - - Turkey - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184769 - PubMed: Akiyama 2013 - - - Japan - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184770 - PubMed: Viau 2013 Patient no 1 in Viau et al, 2013 F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184771 - PubMed: Viau 2013 Patient no 2 in Viau et al, 2013 F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184772 - PubMed: Viau 2013 Patient no 5 in Viau et al, 2013 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184773 - PubMed: Viau 2013 Patient no 3 in Viau et al, 2013 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184774 - PubMed: Cheillan 2012 - - - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184775 - PubMed: Cheillan 2012 - - - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184776 - PubMed: Cheillan 2012 - M - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184779 - PubMed: Cheillan 2012 - - - France - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184780 - {PMID23583224:El-Gharbawy 2013 Subject no 1 in El-Gharbawy et al, 2013 - - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184783 - {PMID23583224:El-Gharbawy 2013 Subject 2 in El-Gharbawy et al, 2013 - - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184784 - {PMID23583224:El-Gharbawy 2013 Subject 3 in El-Gharbawy et al, 2013 - - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184785 - PubMed: Dhar 2009 Patient no 1 in Dhar et al, 2009 F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184786 - PubMed: Dhar 2009 Patient no 2 in Dhar et al, 2009 F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184787 - PubMed: Dhar 2009 Patient no 3 in Dhar et al, 2009 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184788 - PubMed: Dhar 2009 Patient no 4 in Dhar et al, 2009 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184789 - PubMed: Dhar 2009 Patient no 5 in Dhar et al, 2009 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184790 - PubMed: Dhar 2009 Patient no 6 in Dhar et al, 2009 F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184791 - PubMed: Dhar 2009 Patient no 7 in Dhar et al, 2009 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184792 - {PMID23660394:Comeaux 2013 Patient B2 in Comeaux et al, 2013 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184793 - {PMID23660394:Comeaux 2013 Patient B12 in Comeaux et al, 2013 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184794 - {PMID23660394:Comeaux 2013 Patient B13 in Comeaux et al, 2013 M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184795 - Mahmutoglu et al, in preparation Patient from Lund/ Christensen F - Denmark - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184796 - PubMed: Leuzzi 2006 - F - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184797 - PubMed: Sempere 2009 - - - Spain - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184798 - PubMed: Carducci 2000 - M - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184801 - PubMed: Bodamer 2009 - - - - - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184804 - PubMed: Item 2004 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184805 - PubMed: Item 2004 - M - Israel - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184808 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184819 - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184820 - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184821 - PubMed: Item 2004 - M - United Kingdom (Great Britain) - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184822 - PubMed: Carducci 2000 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184823 - PubMed: Carducci 2000 - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184824 - PubMed: Carducci 2000 - M - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
00184825 - PubMed: Cheillan 2012 - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 2 1 Gajja Salomons
00184826 - PubMed: Cheillan 2012 - F - Netherlands - - 0 - - CCDS-2;GAMTD - GAMT GAMT 1 1 Gajja Salomons
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