Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

Table 1 Summary of the main clinical features of the patient

Organ	Manifestations
Eye	(1) Long palpebral fissure, arched eyebrow, long eyelashes; and (2) sparse lateral eyebrows, optic nerve, and retina hypoplasia
Ear	Hearing loss
Nose	Short columella with depressed nasal tip, wide nasal bridge
Oral cavity	High-arched palate
Dermatoglyphic	Simian crease
Limbs and joints	Joint laxity
Head	High forehead and hairline
Heart	Patent ductus arteriosus, patent foramen ovale
Gastrointestinal	Anal atresia, persistent feeding difficulties
Genitourinary	Mild hydronephrosis and dilatation on the right kidney
Metabolic	Persistent hypoglycemia, mild high blood lactic acid levels
Immunologic	Immune dysfunction, frequent pulmonary infections
Neurologic	Hypotonia, weak crying
Neuroimaging	Corpus callosum hypoplasia, enlarge ventricles, and white matter dysplasia
Growth delay	Normal growth parameters at birth, postnatal growth retardation, motor delay
Intellectual disability	Mental retardation
Endocrine system	Low insulin-like growth factor 1 deficiency