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

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

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