Poretti-boltshauser syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome | C4014821 | LAMA1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21937992, 25105227 | - |