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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02571 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ... infantile-onset hypotonia and developmental delay. Patients harboring de novo heterozygous variants in POLR2A have been reported. Human POLR2A encodes the RPB1 protein, which is the largest of twelve subunits ... | Nervous system disease | POLR2A [HSA:5430] [KO:K03006] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |