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Table 1 Clinical features of our cohort of Kabuki syndrome patients

From: Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Gender 36/62 (58.1%) Male
  26/62 (41.9) Female
General features  
Short stature 38/62 (61.2)
Microcephaly 18/62 (29)
Neonatal problems 42/62 (67.7)
Facial  
Long palpebral fissures 59/62 (95.2)
Everted lower eyelids 53/62 (85.5)
Large dysplastic ears 56/62 (90.3)
Arched eyebrows, sparse lateral one third 51/62 (82.2)
Flat nasal tip 43/62 (69.3)
Abnormal dentition 33/62 (53.2)
High/cleft palate 37/62 (59.7)
Strabismus 26/62 (41.9)
Blue sclerae 11/62 (17.7)
Micrognathia 20/62 (32.2)
Ptosis 32/62 (51.6)
Broad nasal root 39/62 (62.9)
Oligodontie 23/62 (37.1)
Thin upper and full lower lip 44/62 (71)
Limb/skeletal  
Persistent fetal pads 47/62 (75.8)
Brachy/clinodactyly 39/62 (62.9)
Lax joints 30/62 (48.4)
Hip dislocation 8/62 (12.9)
Visceral anomalies  
Cardiac anomalies 37/62 (59.7)
Urogenital anomalies 24/62 (38.7)
Neurologic  
MR 52/62 (83.9)
Hypotonia 37/62 (59.7)
Seizures 13/62 (21.4)
Other clinical features (most recurrent)  
frequent infections 26/62 (41.9)
leftearly breast development 10/62 (16.1)
lefthypoacusia 7/62 (11.3)
skeletal anomalies 6/62 (9.7)
leftthyroid anomalies 4/62 (6.9)
leftagenesis/dysgenesis corpus callosum 3/62 (5.2)