Human genes for Kabuki syndrome
Kabuki syndrome [DOID:0060473]
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.
Synonyms: Kabuki syndrome, DOID:0060473, Kabuki disease, Kabuki disorder, Kabuki syndromes ...