Table 1 The prevalence of major findings in more than 350 individuals with Kabuki syndrome (KS)

Typical facial features*

~ 95

Intellectual disability

92

Hypotonia

25-89

Postnatal growth retardation

35-81

Joint hypermobility

50-75

Feeding difficulties

70

Congenital heart defects

40-50

Premature thelarche

7-50

Hearing loss

40

Seizures

10-39

Ocular anomalies

33

Cleft lip and/or palate

33

Renal and urinary tract anomalies

25

Immune dysfunction:

~ 20

Hypogammaglobulinemia,

Idiopathic Thrombocytopenic Purpura (ITP), Autoimmune haemolytic anemia,

Thyroiditis

Vitiligo