Table 2.

Summary of clinical features of individuals with a mutation in PHIP

	Number	Percentage
Gender
Male	11/23	48%
Growth
Overweight	17/23	74%
Neurological
ID (mild-severe)	18/23	78%
Behavioral problems	18/23	78%
Fatigue	10/18	56%
Facial
High forehead	14/21	67%
Full eyebrows and /or synophrys	13/22	59%
Large ears	14/22	64%
Upturned nose and/or thick alae nasi	15/22	68%
Extremities
Tapering fingers	16/21	76%
Clinodactyly fifth fingers	14/22	64%
Other
Vision problems	15/23	65%