Table 4.

Demographic data of the WDR45 cohort stratified by predicted mutational effect.

	Protein loss	Residual protein function
Cases: n	129	18
Sex: M:F	1:9	1:7
Initial symptom
Developmental delay: n	74 (57.4%)	7 (38.9%)
Seizures: n	36 (27.9%)	7 (38.9%)
Other: n	10 (7.8%)	3 (16.7%)
NA: n	13 (10.1%)	2 (11.1%)
Median age at disease onset: Years	0.8 (IQR = 1.1)	1 (IQR = 1.2)
Median age at first report of developmental delay: Years	0.8 (IQR = 1.6)	2.5 (IQR = 1.5)
Median age at first report of seizures: Years	1.2 (IQR = 1.0)	1.5 (IQR = 1.2)
Median age at first report of epileptic spasms: Years	0.6 (IQR = 0.5)	1.2 (IQR = 0.3)
Median age at detection of brain iron accumulation: Years	11 (IQR = 23.1)	12.6 (IQR = 11.5)
Median age at first report of movement disorders: Years	24 (IQR = 18.9)	15 (IQR = 23)
Median age at first report of developmental regression: Years	26 (IQR = 6.0)	21 (IQR = 13.8)
Median age at first report of mental deterioration: Years	26 (IQR = 6.5)	21.5 (IQR = 16)
Median symptom load (phenotypic features per individual): n	12 (IQR = 5)	12 (IQR = 5)

F, female; IQR, interquartile range; M, male; n, number; NA, not available.