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

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