Table 2.

PI4KA-Related Disorder: Frequency of Select Features

FeatureProportion of
Persons w/Feature 1		Comment
Neurologic
manifestations 		Limb spasticity16/166/16 w/lower limb spasticity; 10/16 w/upper & lower limb spasticity
Developmental delay14/16
Intellectual disability15/16
Seizures10/16
Ataxia10/16
Nystagmus8/16
Brain MRI
findings 		Hypomyelinating leukodystrophy /
delayed myelination		12/16Includes only those who survived beyond neonatal period & underwent neuroimaging
Cerebellar hypoplasia / atrophy12/19
Dysplastic/thin corpus callosum11/19
Perisylvian polymicrogyria4/19
Multiple intestinal atresia 5/24
Inflammatory bowel disease 4/24
Immunodeficiency 6/21
1.

Affected persons who died before a specific clinical sign would become apparent are not included in the table.

From: PI4KA-Related Disorder

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