Table 2.

SLC39A8-CDG: Frequency of Select Features

FeatureProportion of Persons w/FeatureComment
Developmental delay /
intellectual disability
15/15
Hypotonia15/15Truncal postural hypotonia
Feeding difficulties14/15
Movement disorder15/15Dyskinetic movements
Spasticity9/15Variable (mild to severe)
Epilepsy9/15
Growth deficiency3/15
Ophthalmologic manifestations14/15Strabismus, cortical blindness
Hearing impairment3/15

From: SLC39A8-CDG

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