Term Name: spondyloepiphyseal dysplasia tarda with characteristic facies
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 )

Relationships
is a type of: autosomal recessive disease spondyloepiphyseal dysplasia tarda