| Gene Symbol | ent-gene-801d9596 |
| Autosomal recessive | Both alleles must be mutated |
| Carrier frequency | Rare in population (~0.1%) |
| Consanguinity | Often observed in affected families |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |