The following description of the clinical characteristics is based on van der Schoot et al. Mol Genet Genomic Med. 2018 May;6(3):393-400
All patients described so far have a developmental delay, generally global. In one patient, speech development was delayed, while motor development was normal.
Corpus callosum abnormalities are present in approximately two third of patients, varying from absent corpus callosum to hypoplasia of the corpus callosum. Microcephaly is seen in 4 out of 10 patients. Hypotonia and/or epilepsy/seizures are variably present, as are behavioral problems, such as attention deficit disorder and autism spectrum disorder.
Facial dysmorphisms are present, but the pattern is not typically recognized previous to the diagnosis.
Congenital abnormalities do not appear to be frequently present, but urogenital anomalies have been described in some patients.
ZBTB18