Table 2.

ENTPD1-Related Neurodevelopmental Disorder: Frequency of Select Features

FeatureProportion of Persons w/Feature 1
Developmental delay / intellectual disability38/38
NeuromuscularProgressive spastic paraparesis40/40
Abnormal deep tendon reflexes28/36
Muscle weakness27/36
Peripheral neuropathy18/36
Epilepsy7/36
Dysarthria and dysphagia27/36
Behavior abnormalities22/36
Neurocognitive regression21/36
1.

Because limited clinical details are available for some reported individuals included in this table, the denominator represents the total number of individuals in whom the corresponding finding was reported.

From: ENTPD1-Related Neurodevelopmental Disorder

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