label: neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
label_lc: neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
description: A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage.