OBO ID: DOID:0112292
Term Name: spondyloepiphyseal dysplasia tarda with intellectual disability Search Ontology:
Synonyms:
Definition: A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. https://pubmed.ncbi.nlm.nih.gov/3612708/
References:
Ontology: Human Disease   ( DOID:0112292 )
OTHER spondyloepiphyseal dysplasia tarda with intellectual disability PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None