Metadata | |
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ID | DOID:0112289 |
Name | spondyloepiphyseal dysplasia tarda with characteristic facies |
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/ |
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Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |