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 | Â | Yes | Â | Yes | Yes | Yes | Â | Yes | Yes | Â |
Low-hanging Columella | Yes | Yes | Â | Â | Â | Â | Yes | Yes | Â | Yes | Yes | Yes |
Short Philtrum | Yes | Â | Â | Â | Â | Â | Yes | Yes | Yes | Yes | Yes | Yes |
Thin Upper Vermilion Border | Yes | Yes | Â | Â | Â | Â | Yes | Yes | Yes | Yes | Yes | Yes |
Wide Mouth | Â | Yes | Â | Â | Â | Â | Â | Â | Yes | Yes | Â | Â |
Deep-set Eyes | Â | Yes | Â | Â | Yes | Â | Â | Yes | Yes | Â | Â | Â |
Long Eyelashes | Yes | Â | Yes | Â | Yes | Yes | Â | Yes | Yes | Yes | Yes | Yes |
Low Set Ears | Yes | Â | Â | Yes | Yes | Â | Â | Yes | Â | Yes | Yes | Yes |
Broad Thumbs | Â | Â | Yes | Â | Â | Â | Â | Yes | Yes | Yes | Yes | Yes |
Brachydactyly | Â | Â | Yes | Yes | Â | Yes | Â | Yes | Yes | Yes | Yes | Yes |
Clinodactyly V finger | Â | Â | Â | Â | Yes | Yes | Â | Yes | Yes | Â | Â | Â |
Small Teeth/Widely Spaced Teeth | NA | NA | Yes | Yes | Â | Â | Â | Yes | Yes | Yes | Yes | Yes |
High-pitched Voice | Â | Â | Â | Â | Â | Â | Â | Â | Â | Yes | Â | Â |
Expressive Language Delay | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Mild to Moderate Intellectual Disability | Yes | Yes | Yes | Yes | Â | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Congenital Heart Defects | NA | NA | Â | Â | NA | Yes | Yes | Â | Â | NA | Yes | NA |
Gastrointestinal Motility Issues | NA | NA | Â | Yes | Â | Â | Â | Yes | Yes | Â | Yes | Yes |
Behavioral Issues | Yes | Â | Yes | Â | Â | Â | Â | Yes | Yes | Yes | Yes | Â |