Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02625 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | ... dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) is a novel microcephalic primordial dwarfism disorder caused by mutations in PRIM1 encoding the catalytic subunit of DNA primase. PRIM1 protein levels were markedly reduced in patient ... | Congenital malformation | PRIM1 [HSA:5557] [KO:K02684] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |