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Entry | Name | Description | Category | Pathway | Gene |
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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 ] |