The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Table 3 Development for different subgroups of terminal 6q deletions

	T-PSMB1	T-DLL1	T-AFDN	T-PDE10A	T-QKI	T-PRKN	T-MAP3K4	T-R	Total (terminal)	I-6q27	I-6q26
Normal	0	2	2	1	0	0	0	0	5	0	3
Borderline	0	1	1	0	1	2	0	0	5	0	1
Mild delay	0	2	3	2	1	6	1	2	17	4	1
Moderate delay	0	6	1	1	3	2	1	2	16	0	0
Severe delay	0	0	0	0	1	1	0	0	2	0	0
Delayed but not specified	1	5	4	2	0	4	2	2	20	0	0
Unknown due to young age	0	6	5	4	1	5	2	4	27	1	1

Not specified = developmental delay is reported, but lacking sufficient information to classify reliably. See also Additional file 2: Fig. S2
Development categorised as normal (IQ > 85), borderline (IQ 70–85), mild (IQ50-70), moderate (IQ 30–50) or severe (IQ < 30) delay. The category with most individuals is highlighted in bold

ISSN: 1750-1172