autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type

Term ID

DOID:0112291

Synonyms

Definition

A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. https://pubmed.ncbi.nlm.nih.gov/14755466/

References

• MIM:609223

Ontology

Human Disease   ( DOID:0112291 )