Pathogenic variants in HEATR5B resulted in the following phenotypes:
• Developmental delay and intellectual disability (ID)
o Severe
o Gross and fine motor development absent or delayed
• Seizures
o Congenital or early onset (< 1 year of age)
o Daily
• Other neurological findings
o Dysphagia
o Nystagmus
o Impaired vision
o Axial hypotonia
o Increased reflexes
• Mild microcephaly (-2SD)
• Neuroimaging
o Pontocerebellar hypoplasia
o Cerebral atrophy
o Ventriculomegaly
o White matter volume loss
o Corpus callosum hypoplasia
Less frequently reported clinical features:
• Microphthalmia