Table 2.

SETBP1 Haploinsufficiency Disorder: Frequency of Select Features

FeatureFrequency of Feature
Delayed motor milestones>90%
Speech and language disorder>95%
Intellectual disabilityMild≤30%
Moderate~30%
Severe~20%
Normal or borderline IQ20%
Behavior problemsADHD-like75%
Other13%-25%
Feeding difficulties60%
Ophthalmologic involvement50%
Excessive drooling35%
Ankyloglossia25%
Digestive problems>20%
Cryptorchidism20% of males
Febrile seizures20%

ADHD = attention-deficit/hyperactivity disorder

From: SETBP1 Haploinsufficiency Disorder

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