Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.

Also known as: SCBMS, seizures, cortical blindness, microcephaly syndrome, seizures, cortical blindness, and microcephaly syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome itself.