spondyloepiphyseal dysplasia tarda with intellectual disability

Term ID

DOID:0112292

Synonyms

Definition

A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. https://pubmed.ncbi.nlm.nih.gov/3612708/

References

• MESH:C564796
• MIM:271620
• ORDO:163665
• UMLS_CUI:C1849053

Ontology

Human Disease   ( DOID:0112292 )