# multiple congenital anomalies-hypotonia-seizures syndrome 3

> Human disease

**Wikidata**: [Q26492833](https://www.wikidata.org/wiki/Q26492833)  
**Source**: https://4ort.xyz/entity/multiple-congenital-anomalies-hypotonia-seizures-syndrome-3


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000124155/MONDO_0014165)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023