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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02298 | Macrocephaly, dysmorphic facies, and psychomotor retardation | ... dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular ... | Congenital malformation | HERC1 [HSA:8925] [KO:K10594] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |