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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02728 | Marbach-Schaaf neurodevelopmental syndrome | ... developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B cause this syndrome. PRKAR1B encodes a regulatory subunit of the cyclic AMP-dependent protein ... | Congenital malformation | PRKAR1B [HSA:5575] [KO:K04739] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |