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Table 1 Summary of clinical and molecular data of 12 FHS patients in our cohort

From: Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Patient 7 Patient 8 Patient 9 Patient 10 Patient 11 Patient 12
SRCAP Mutation c.7303C > T
/p.Arg2435Ter
c.7189G > T
/p.Glu2397Ter
c.7330C > T
/p.Arg2444Ter
c.7303C > T
/p.Arg2435Ter
c.7303C > T
/p.Arg2435Ter
c.7330C > T
/p.Arg2444Ter
c.7245_7246delAT/p.Ser2416ArgfsTer26 c.7330C > T
/p.Arg2444Ter
c.7330C > T
/p.Arg2444Ter
c.7303C > T
/p.Arg2435Ter
c.7303C > T
/p.Arg2435Ter
c.7466C > G
/p.Ser2489Ter
Exon E34 E34 E34 E34 E34 E34 E34 E34 E34 E34 E34 E34
De novo Yes Yes Yes Yes Yes Yes Yes Yes Yes NA Yes Yes
Short Stature Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
Age at first assessment 9Y2M 2Y2M 5Y2M 5Y6M 1Y6M 2Y 1Y 5Y 6Y6M 5Y2M 1Y3 M 2Y2M
Delayed Bone Age Yes Yes Yes Yes NA Yes Yes Yes Yes Yes NA Yes
Triangular Face Yes Yes   Yes   Yes Yes Yes   Yes Yes  
Low-hanging Columella Yes Yes      Yes Yes   Yes Yes Yes
Short Philtrum Yes       Yes Yes Yes Yes Yes Yes
Thin Upper Vermilion Border Yes Yes      Yes Yes Yes Yes Yes Yes
Wide Mouth   Yes        Yes Yes   
Deep-set Eyes   Yes    Yes    Yes Yes    
Long Eyelashes Yes   Yes   Yes Yes   Yes Yes Yes Yes Yes
Low Set Ears Yes    Yes Yes    Yes   Yes Yes Yes
Broad Thumbs    Yes      Yes Yes Yes Yes Yes
Brachydactyly    Yes Yes   Yes   Yes Yes Yes Yes Yes
Clinodactyly V finger      Yes Yes   Yes Yes    
Small Teeth/Widely Spaced Teeth NA NA Yes Yes     Yes Yes Yes Yes Yes
High-pitched Voice           Yes   
Expressive Language Delay Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
Mild to Moderate Intellectual Disability Yes Yes Yes Yes   Yes Yes Yes Yes Yes Yes Yes
Congenital Heart Defects NA NA    NA Yes Yes    NA Yes NA
Gastrointestinal Motility Issues NA NA   Yes     Yes Yes   Yes Yes
Behavioral Issues Yes   Yes      Yes Yes Yes Yes  
  1. Blank feature absent, NA data not available