Table 2.

Phenotype comparisons.

(A) Clinical Findings among Individuals with Dominant KDM5B Variants in this Study vs. in the Literature
Clinical Finding	This Study (n = 19)	Literature (n = 6)
ID	42%	50%
DD	68%	83%
Either ID or DD	79%	83%
Autistic behaviors	53%	33%
Behavioral abnormalities	37%	33%
ADHD	16%	0%
Other neurological findings	26%	83%
Renal anomalies	21%	17%
Skin anomalies	16%	0%
Finger anomalies	26%	17%
Facial dysmorphisms	68%	50%
Sleep disorder	47%	0%
Joint hypermobility	21%	0%
Ophthalmologic anomalies	16%	17%
Cardiac anomalies	11%	0%
(B) Clinical Findings among Individuals with Bi-Allelic KDM5B Variants in This Study vs. in the Literature
Clinical Finding	This Study (n = 2)	Literature (n = 8)
ID	100%	75%
DD	50%	100%
Either ID or DD	100%	100%
Autistic behaviors	0%	13%
Behavioral abnormalities	100%	0%
ADHD	0%	13%
Other neurological findings	50%	50%
Renal anomalies	0%	0%
Skin anomalies	0%	0%
Finger anomalies	50%	38%
Facial dysmorphisms	100%	88%
Sleep disorder	0%	13%
Joint hypermobility	50%	13%
Ophthalmologic anomalies	50%	38%
Cardiac anomalies	0%	25%
(C) Clinical Findings among Individuals with Missense vs. Disruptive Dominant KDM5B Variants in This Study
Clinical Finding	Individuals with Missense Variants (n = 8)	Individuals with Disruptive Variants (n = 11)
ID	50%	36%
DD	38%	91%
Either ID or DD	63%	91%
Autistic behaviors	38%	64%
Behavioral abnormalities	38%	36%
ADHD	13%	18%
Other neurological findings	25%	27%
Renal anomalies	38%	9%
Skin anomalies	38%	0%
Finger anomalies	25%	27%
Facial dysmorphisms	63%	73%
Sleep disorder	38%	55%
Joint hypermobility	25%	18%
Ophthalmologic anomalies	13%	18%
Cardiac anomalies	13%	9%