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

From: Autoimmune haematological disorders in two Italian children with Kabuki Syndrome

Finding Prevalence (%)
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  
  1. *Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; Arched and broad eyebrows; Short columella with depressed nasal tip; and large, Prominent, or cupped ears.