# Renpenning syndrome

> intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males

**Wikidata**: [Q7313459](https://www.wikidata.org/wiki/Q7313459)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Renpenning's_syndrome)  
**Source**: https://4ort.xyz/entity/renpenning-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/8128f36b-f273-49ee-bfd8-bee64b4df921--2018-11-09T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8128f36b-f273-49ee-bfd8-bee64b4df921-2018-11-09T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102103/MONDO_0010653)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)