Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Table 5 The most interesting p-values of data availability for main and sub-questions

Main question	Parent	Literature	Significance^# α = 0.05
Main question	Known/total	Known/total	Significance^# α = 0.05
Brain imaging abnormality	27/34	36/39	0.1099 (0.1725)
Developmental delay*	25/25	31/31	1 (1)

Sub-question	Parent	Literature	Significance^$ α = 0.05
Sub-question	Known/main question present	Known/main question present	Significance^$ α = 0.05
Type of joint hypermobility	15/16	2/14	< 0.0001
Type of brain abnormality	16/22	35/35	0.0021
Type of feeding difficulties	23/25	0/3	0.0031
Was medication for epilepsy used	17/19	9/24	0.0006
Speak first words	23/25	2/5	0.0219
Use two-word sentences	18/20	1/5	0.0055

*For the main question on developmental delay, only individuals above the age of 2 years were included (see methods in Engwerda et al. [4])
^#Assessed using Chi-square test (Fisher’s exact test), see Methods
^$Assessed using Fisher’s exact test, see Methods
The most interesting p-values for the main and sub-questions. Sub-questions were only shown in the questionnaire when applicable (abnormality present or milestone achieved). p-values for all questions can be found in Additional file 1: Tables S11 and S12

ISSN: 1750-1172