Affected individuals shared some cardinal symptoms such as global developmental delay/unspecified intellectual disability, absent or severely delayed speech, epilepsy, spasticity (mainly consisting of spastic tetraparesis), hypotonia, dilation of lateral ventricles, hydrocephalus, and intracranial haemorrhages, frequently associated with cerebral calcifications. Other vascular anomalies were represented by retinal haemorrhage due to increased tortuosity of retinal vasculature, and renal medullary haemorrhage. Other features were observed only in some individuals, such as microcephaly, thinning of the corpus callosum, hydrocephalus and focal white matter lesions. Most individuals showed dysmorphic features, mainly consisting of bitemporal narrowing, highly arched eyebrow and bulbous nasal tip, long eyelashes, abnormal vermilion, high narrow palate, wide nasal bridge, upslanted palpebral fissures, and microretrognathia.
ESAM