Term Name: autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
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.
Ontology: Human Disease [DOID:0112291]   ( DOID:0112291 )

Relationships
is a type of: autosomal recessive disease spondyloepiphyseal dysplasia tarda