Table 2.

Select Features of ASXL3-Related Disorder

Feature% of Persons
w/Feature
Comment
Speech delay100%Most are nonverbal or have very limited speech.
Intellectual disability

99%

Typically moderate to severe
Facial dysmorphism98%See Suggestive Findings.
Hypotonia86%Central hypotonia can be assoc w/↑ tone in upper & lower limbs.
Behavioral concerns78%Incl autistic traits or an ASD diagnosis
Feeding difficulties78%Most patients in the early stages are referred w/feeding difficulties & failure to thrive.
Skeletal findings74%
Eyes~50%Strabismus is the most common finding.
Seizures38%GTCS & absence seizures; most have normal brain MRI imaging.

ASD = autism spectrum disorder; GTCS = generalized tonic-clonic seizures

From: ASXL3-Related Disorder

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