# nemaline myopathy 7

> nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13

**Wikidata**: [Q32144919](https://www.wikidata.org/wiki/Q32144919)  
**Source**: https://4ort.xyz/entity/nemaline-myopathy-7


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3c04b972-6797-42e7-87e8-ee97eb0bbad7--2019-11-25T15:01:39)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c04b972-6797-42e7-87e8-ee97eb0bbad7-2019-11-25T150139.061Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165410/MONDO_0012538)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)