Table 1 Main clinical features in individuals with SETBP1-HD (modified from Jansen et al. 2021)
From: Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Clinical features | n = 34 from Jansen et al. 2021 | Subject ID1 | Subject ID2 | Subject ID3 |
|---|---|---|---|---|
Gender (male:female) | 19:15 (56% male) | Male | Male | Male |
Motor developmental delay | 97% |  +  |  +  |  +  |
Speech delay | 97% |  +  |  +  |  +  |
Intellectual Disability/Developmental Delay | 77% |  + (Mod) |  + (Mild) |  +  |
Facial Dysmorphisms |  +  |  +  |  +  |  +  |
 Ptosis |  +  |  +  |  +  |  +  |
 Short palpebral fissures |  +  | – |  +  |  +  |
 Epicanthal folds | na |  +  |  +  |  +  |
 Broad nasal bridge |  +  |  +  |  +  |  +  |
 Wide spaced eyes |  +  |  +  |  +  |  +  |
 Short nose with anteverted nostrils | na |  +  |  +  |  +  |
 Deep nasolabial folds | na | – |  +  |  +  |
 High narrow palate |  +  | – |  +  |  +  |
Vision impairment | 48% |  + (HM) | – | – |
Hearing impairment | 9% | – | – | – |
Hypotonia | 52% |  +  |  +  |  +  |
Seizures | 21% |  +  | – |  +  |
 Febrile | 15% |  +  | – |  +  |
Ankyloglossia/short frenulus | 23% (25% in Morgan et al. 2021) | – | – |  +  |
Undescended testicles (males) | 14% |  +  | – |  +  |
Behavior problems | 76% |  +  | – |  +  |
Anxieties | 24% | – | – |  +  |
Hyperactivity | 35% |  +  |  +  |  +  |
Attention/concentration deficit | 59% |  +  | – |  +  |
Diagnosed ADHD | 18% |  +  | – |  +  |
Temper tantrums | 24% | – | – | – |
Aggressive behavior | 21% | – | – | – |
Sleep problems | 12% | – | – | – |
Self-mutilation | 8% | – | – | – |