Term Name: | Ehlers-Danlos syndrome arthrochalasia type 1 |
---|---|
Synonyms: | |
Definition: | An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. |
Ontology: | Human Disease [DOID:0080727] ( DOID:0080727 ) |