Term Name: | spondyloepiphyseal dysplasia tarda with intellectual disability |
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Synonyms: | |
Definition: | A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. |
Ontology: | Human Disease [DOID:0112292] ( DOID:0112292 ) |