Clinical features and inheritance
De novo disruption of the BPTF gene cause an autosomal dominant disorder characterized mainly by neurodevelopmental impairment (developmental delay/intellectual disability, speech delay, motor delay, hypotonia), acquired microcephaly, and skeletal (distal limb) malformations.
Prevalence
The disorder is rare, as only eight point mutations were identified in about 50,000 exomes and two CNV deletions were observed among over 60,000 individuals in the initial study.