| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.omim.org/entry/614037 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the leukotriene c4 synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| LTC4S | leukotriene C4 synthase |
