Table 2.

Select Features of DYRK1A Syndrome

FeatureFrequency of Persons w/Feature 1Comment
DD/ID100%
Hypertonia12/33
Gait disturbance24/45
Speech impairment100%All have speech delay; however, some do speak at a later age.
Feeding problems93%
Epilepsy65%Some have only febrile seizures in infancy.
ASD46%↑ to 69% when broadening criteria to incl ASD-related behaviors w/o formal diagnosis
Anxiety27%
Hyperactivity10/35
Sleep disturbance6/15Not often reported on in studies
Microcephaly95%
Weight (<−2 SD)49%
Short stature44%
Eye abnormalities79%
Characteristic facial features90%
Cardiac defects9/48
Gastrointestinal problems30%
Urogenital anomalies40%
Musculoskeletal features10%
Dental anomalies6/36

ASD = autism spectrum disorder; DD = developmental delay; ID = intellectual disability

1.

Some studies have had limited phenotypic descriptions; thus, information is not available on all features. When the number of individuals evaluated with a particular feature is <50, a fraction (rather than a %) is used, with the denominator indicating the total number evaluated for the feature.

From: DYRK1A Syndrome

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