Dataset | OMIM Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. (Orphanet Rare Disease Ontology, Orphanet_2658) |
External Link | http://www.omim.org/entry/151050 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the lenz-majewski hyperostotic dwarfism phenotype from the curated OMIM Gene-Disease Associations dataset.
Symbol | Name |
---|---|
PTDSS1 | phosphatidylserine synthase 1 |