De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Table 2 Comparison of clinical presentation in this study and in the published cohort

Clinical features	Number of subjects in this study*	Percentage in this study	Number of subjects in the published cohorts (Schafgen et al. [14]; Babbs et al. [6]; Lelieveld et al. [15]; McRae et al. [16]**)	Percentage in the published cohort
ID	24/32	75	8/12	67
Neurobehavioral abnormalities	21/32	66	7/12	58
Dysmorphic facial features	25/32	78	4/12	33
Sleep disturbance	12/32	38	NR	NR
Macrocephaly	8/32	25	3/12	25
Overgrowth/obesity/tall stature	9/32	28	2/12	17
Digital anomalies	11/32	34	1/12	8
Seizures	8/32	25	1/12	8
Motor delay	30/32	94	5/12	42
Hypotonia	21/32	66	3/12	25
Movement disorder	14/32	44	NR	NR
Language delay	28/32	86	5/12	42
Structural brain abnormalities	7/32	22	2/12	17

Abbreviations: ID intellectual disability, NR not reported
*Five patients from the original McRae et al. DDD cohort [16] (individual #2, #8, #10, #19, and #26) were included in this study
**Two additional patients from this study were included in the meta-analysis from previous studies

ISSN: 1756-994X