|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. (Orphanet Rare Disease Ontology, Orphanet_79507)|
|Downloads & Tools|
1 genes associated with the leukotriene c4 synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
|LTC4S||leukotriene C4 synthase|