Disease #05493 (CCDS3;GATMD (deficiency, cerebral creatine, syndrome, type 3 (CCDS3, arginine-glycine amidinotransferase deficiency (GAMTD))), OMIM:612718)

Official abbreviation CCDS3;GATMD
Name deficiency, cerebral creatine, syndrome, type 3 (CCDS3, arginine-glycine amidinotransferase deficiency (GAMTD))
OMIM ID 612718
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 38
Phenotype entries for this disease 38
Associated with 1 gene GATM
Associated tissues -
Disease features -
Remarks -


Individuals

38 entries on 1 page. Showing entries 1 - 38.
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00184566 - PubMed: Bianchi 2000, PubMed: Item 2001 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184567 - PubMed: Bianchi 2000, PubMed: Item 2001 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184568 - PubMed: Battini 2006 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184569 - PubMed: Batinni 2002 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184570 - Journal: Salomons 2005, Ndika et al in press - F - - - - 0 - - CCDS3;GATMD - GATM GATM 1 1 Gajja Salomons
00184571 - PubMed: Verma 2010 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184572 - PubMed: Verma 2010 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184573 - PubMed: Edvardson 2010 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184574 - PubMed: Edvardson 2010 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184579 - PubMed: Nouioua 2013 - F - France - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184580 - PubMed: Nouioua 2013 - F - France - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184583 - PubMed: Nouioua 2013 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184584 - PubMed: Nouioua 2013 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184587 - PubMed: Comeaux 2013 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184588 - PubMed: Comeaux 2013 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184589 - PubMed: Comeaux 2013 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184592 - PubMed: DesRoches 2016, PubMed: Comeaux 2013 patient xx M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184593 - PubMed: DesRoches 2016, PubMed: Comeaux 2013 patient xx M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184594 - PubMed: Stockler-Ipsiroglu 2015, PubMed: DesRoches 2016 patient 16 M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184595 - PubMed: Nouioua 2013, PubMed: DesRoches 2016 patient xx F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184596 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184597 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184598 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184599 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184600 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184601 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184602 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184603 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184604 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184605 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184606 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184607 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184608 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184609 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184610 - PubMed: DesRoches 2016 - - - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Rahma MANI
00184611 - PubMed: Stockler 2015 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184612 - PubMed: Stockler 2015 - M - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
00184613 - PubMed: Stockler 2015 - F - - - - 0 - - CCDS3;GATMD - GATM GATM 2 1 Gajja Salomons
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