Disease #05759 (MOCOD (deficiency, Molybdenum cofactor (MOCOD)))

Official abbreviation MOCOD
Name deficiency, Molybdenum cofactor (MOCOD)
OMIM ID -
Inheritance -
Individuals reported having this disease 24
Phenotype entries for this disease 24
Associated with 3 genes GPHN, MOCS1, MOCS2
Associated tissues -
Disease features -
Remarks -
Date created 2020-05-26 17:28:16 +02:00 (CEST)
Date last edited N/A


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00302631 Pat1 PubMed: Riess 1999 - - - Egypt Coptic - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302632 Pat2 PubMed: Riess 1999 - - - Portugal - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302633 Pat3 PubMed: Riess 1999 - - - Italy - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302634 Pat4 PubMed: Riess 1999 - - - Germany - - - - - MOCOD - MOCS2 MOCS2 2 1 Johan den Dunnen
00302635 Pat5 PubMed: Riess 1999 - - - France - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302636 Pat6 PubMed: Riess 1999 - - - Portugal - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302637 Pat7 PubMed: Riess 1999 - - - United Kingdom (Great Britain) - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302638 patient PubMed: Johnson 2001 - F no China - - - - - MOCOD see paper; ... MOCS2 MOCS2 2 1 Johan den Dunnen
00302639 - PubMed: Leimkuhler 2005 - - - United Kingdom (Great Britain) - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302640 - PubMed: Leimkuhler 2005 - - - Mexico - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302641 patient PubMed: Per 2007 2-generation family, 1 affected, 3 deceased sibs, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - MOCOD see paper; ... MOCS2 MOCS2 1 1 Johan den Dunnen
00302642 patient PubMed: Hahnewald 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Senegal - 00y00m23d - - - MOCOD see paper; ..., healthy at birth; 3d-feeding difficulties, hypotonia, drug-resistant tonic seizures and clonic seizures, elevated sulfite and diminished uric acid in urine; 21d-died cardiorespiratory arrest MOCS2 MOCS2 1 1 Johan den Dunnen
00302643 - PubMed: Reiss 2011 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302644 - PubMed: Reiss 2011 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302645 - PubMed: Reiss 2011 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302646 - PubMed: Reiss 2011 - - - France - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302647 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302648 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302649 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302650 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302651 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302652 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302653 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
00302654 - PubMed: Reiss 2003 - - - - - - - - - MOCOD - MOCS2 MOCS2 1 1 Johan den Dunnen
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