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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01922 | Infantile hypotonia with psychomotor retardation and characteristic facies | Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment ... | Congenital malformation |
(IHPRF1) NALCN [HSA:259232] [KO:K21863] (IHPRF2) UNC80 [HSA:285175] [KO:K24015] (IHPRF3) TBCK [HSA:93627] [KO:K17544] (IHPMR) CCDC174 [HSA:51244] [KO:K25178] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |