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Metadata
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/
Xrefs

MESH:C564003

MIM:600093

Parent Relationships

is_a spondyloepiphyseal dysplasia tarda

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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