# syndromic X-linked intellectual disability Hedera type

> syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11

**Wikidata**: [Q28065610](https://www.wikidata.org/wiki/Q28065610)  
**Source**: https://4ort.xyz/entity/syndromic-x-linked-intellectual-disability-hedera-type


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)