MOCS2, molybdenum cofactor synthesis 2, 4338

N. diseases: 39; N. variants: 9
Disease: Cerebral Palsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 GeneticVariation disease BEFREE Sequencing of the MOCS2A gene revealed heterozygosity for c.[265T>C] + [266A>G], diagnosed as molybdenum cofactor deficiency type B. Neonatal seizures, progressive cerebral atrophy, and low serum levels of uric acid may provide diagnostic clues in patients with cerebral palsy of undetermined cause. 22759696 2012