Table 1.

Summary of clinical and molecular data of patients with Floating-Harbor syndrome

	Patient A	Patient B*	Patient C	Patient D	Patient E
SRCAP mutation	Exon 34	Exon34	Exon 34	Exon 34	Exon 33
	c.7395delA (p.Val2466Tyrfs*9)	c.7218dupT (p.Gln2407Serfs*36)	c.7330C > T (p.Arg2444*)	c.7303C > T (p.Arg2435*)	c.6985C > T (p.Arg2329*)
	de novo	de novo	de novo	de novo	de novo
Sex	Female	Female	Female	Female	Female
Birth weight (SD)	−1	−1	−1.3	−1.3	Mean
Birth length (SD)	−2	−1.8	−1	−1.5	−1
OFC at birth (SD)	−1.5	−1.5	−0.5	n.d.	Mean
Age at first assessment	2 years	2 years	4 years	5 years	5 years 4 months
Short stature (SD)	−2.5	−3.2	−3.6	−2	−3.4
Age at last assessment	10.5 years	22 years	21 years	7 years 3 months	10 years
Height (SD)	−2	154 cm; -1.8	140 cm; -3.7	−2	−1.7
OFC (SD)	−1	−0.7	−1.6	−0.4	−1.7
ID	+	+	+	+	-
Language impairment	+	+	+	+	+
Craniofacial features	Low-hanging columella, short philtrum, thin lips	Broad nasal tip, long columella, short philtrum, thin lips, posteriorly rotated ears	Low-hanging columella, short philtrum, thin lips	Low-hanging columella, short philtrum, thin lips	Prominent nose, low-hanging columella, short philtrum, thin lips
Skeletal anomalies	Delayed bone age, brachydactyly and clinodactyly V	Delayed bone age, clinodactyly V, brachydactyly, broad thumbs	Delayed bone age, broad fingertips, pseudoarthrosis of clavicles	Delayed bone age, brachydactyly V	Broad fingertips, clinodactyly V
Treatment	GH treatment (between the 3rd and the 6th year of life)	GH treatment (between the 5th and the 14th year of life)	-	-	GH treatment
Other findings	Behavioural difficulties	Delayed puberty, primary ovarian insufficiency	Hearing problems, behavioural difficulties, hypermenorrhoea	Hearing loss, microdontia	Behavioural problems

*The clinical manifestations of patient B at age of 5 years were published in the AJMG 10:47-52, 2001.