Term Name: Kabuki syndrome
Synonyms: Kabuki make up syndrome, KMS, Niikawa-Kuroki syndrome
Definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
Ontology: Human Disease [DOID:0060473]   ( DOID:0060473 )

Relationships
is a type of: syndrome