anauxetic dysplasia 3

Term ID

DOID:0080963

Synonyms

Definition

A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. https://pubmed.ncbi.nlm.nih.gov/31250547/

References

• OMIM:618853

Ontology

Human Disease   ( DOID:0080963 )