Table 3.

Frequency (%) of clinical features in the three subgroups of patients with pathogenic variants in SETD1A

	% with clinical feature
Number of patients	6
Clinical features
Macrocephaly (HP:0000256) (absolute or relative) (%)	83
Short stature (HP:0004322) <10th centile (%)	33
Non-specific facial dysmorphisms HP:0001999 (%)	100
Joint laxity (HP:0001388) or hypermobility (%)	50
Sleep disturbance (HP:0002360) (%)	66
Brain MRI anomalies (HP:0002011) (%)	17
Mild—moderate neurodevelopmental delay (HP:0012758) (%)	83
Severe—profound neurodevelopmental delay (HP:0012758) (%)	17
Autistic spectrum features (HP:0000729) (%)	50
Seizures (HP:0001250) (%)	17
Congenital anomalies	0