Table 2.

Features of HIST1H1E Syndrome

FeatureProportion of Persons w/FeatureComment
Cognition & motor development100% (46/46)ID is highly variable, ranging from mild to severe.
Abnormal brain MRI92% (22/24)Corpus callosal abnormalities are most frequent; 2 persons w/seizures
Cryptorchidism75% (15/20 males)
Hypotonia67% (29/43)
Behavioral issues59% (23/39)Anxiety, phobias, obsessive behaviors, ADD, aggression, auditory hypersensitivity, & AS disorder/traits
Skeletal features54% (22/41)A range of skeletal features are described.
Abnormal dentition51% (22/43)Crumbling teeth, missing teeth (primary & adult) & multiple dental caries
Congenital cardiac anomalies /
Abnormal echocardiogram		40% (16/41)Atrial septal defect is most frequent.
Hypothyroidism29% (6/21)

ID = intellectual disability; ADD = attention-deficit disorder; AS = autism spectrum

From: HIST1H1E Syndrome

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