has material basis in germline mutation in DIAPH1 syndromic disease hereditary disease progressive microcephaly-seizures-cortical blindness-developmental delay syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/seizures_cortical_blindness_and_microcephaly_syndrome Orphanet:477814 MEDGEN:1799073 SCBMS OMIM:616632 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. GARD:0017858 MONDO:0014714 seizures, cortical blindness, microcephaly syndrome UMLS:C5567650 disorder of development or morphogenesis