spondyloepiphyseal dysplasia tarda with characteristic facies

Term ID

DOID:0112289

Synonyms

Definition

A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. https://pubmed.ncbi.nlm.nih.gov/8298734/

References

• MESH:C564003
• OMIM:600093

Ontology

Human Disease   ( DOID:0112289 )