| Main clinical features
|
developmental delay and/or intellectual disability; cognitive impairment ranged from autism spectrum disorder with speech delay and learning disabilities but neurotypical intelligence
axial hypotonia and dysmorphic features, with ear abnormalities (low-set, posteriorly rotated ears; small ears with overfolded superior helices; and thick helices), hypertelorism, micrognathia, short downslanted palpebral fissures, a thick upper lip, a short philtrum, midface hypoplasia, and macrodontia
digital anomalies, seizures and drug-resistant epilepsy
MRI was abnormal often with white-matter volume loss with enlargement of the ventricles, thinning of the corpus callosum, and cerebral and cerebellar atrophy
also short stature, and ventricular non-compaction cardiomyopathy |