Table 2.

Select Features of ANKRD17-Related Neurodevelopmental Syndrome

FeatureProportion of Persons w/Feature 1Comment
Developmental delay (DD) / intellectual disability (ID)30/33ID may range from borderline to severe.
Speech delay28/31Speech delay, incl absence of speech, has been observed w/varying degrees of ID/DD.
Ophthalmologic abnormalities13/22Typically strabismus & refractive errors
Growth deficiency13/31Postnatal height &/or weight ≥2 SD below mean
Feeding difficulties11/26↓ intake, which may require enteral feeding
Recurrent infections11/32Usually bacterial, but may also be viral
Gait/balance disturbances8/24
Epilepsy9/32

From: ANKRD17-Related Neurodevelopmental Syndrome

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