Patients with bi-allelic pathogenic variants in HID1 show early infantile encephalopathy, corpus callosum hypoplasia, hypopituitarism, epilepsy, visual impairment and severe developmental delay as the main clinical signs.
All patients share comparable findings at brain imaging, including mild to moderate cerebral atrophy and a thin corpus callosum. Hypopituitarism is diagnosed in all patients between 2 and 6 months of age and every patient was in need of substitution of one or more hormones.
HID1