Term Name: orofaciodigital syndrome XI
Synonyms:
Definition: An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
Ontology: Human Disease [DOID:0060381]   ( DOID:0060381 )

Relationships
is a type of: orofaciodigital syndrome