Term Name: | obsolete SC phocomelia syndrome |
---|---|
Synonyms: | Hypomelia Hypotrichosis Facial hemangioma syndrome, SC PSEUDOTHALIDOMIDE SYNDROME |
Definition: | A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. |
Ontology: | Human Disease [DOID:0050536] ( DOID:0050536 ) |
Obsolete | true |