OBO ID: DOID:0112289
Term Name: spondyloepiphyseal dysplasia tarda with characteristic facies Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   ( DOID:0112289 )
Relationships
is a type of:
OTHER spondyloepiphyseal dysplasia tarda with characteristic facies PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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