Term Name: | spondyloepiphyseal dysplasia tarda with characteristic facies |
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Synonyms: | |
Definition: | A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. |
Ontology: | Human Disease [DOID:0112289] ( DOID:0112289 ) |