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Condition report · Neurological

DIAPH1-Related Microcephaly, Seizures and Cortical Blindness

A rare inherited condition with a small head size, seizures, visual impairment arising in the brain and developmental delay. It is caused by changes in both copies of the DIAPH1 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

Caused by changes that stop both copies of the DIAPH1 gene from working. DIAPH1 helps organise the cell's internal scaffolding, which has an essential role in brain development.

Signs and symptoms

Small head size, seizures beginning in infancy, and visual impairment caused by the brain rather than the eyes (cortical blindness). Developmental delay is typical. Less often there are recurrent respiratory infections, bronchiectasis or immune problems.

What a diagnosis changes

Seizure treatment, vision and developmental support, and monitoring of growth. Genetic counselling is recommended, and carrier testing is available for relatives.

Genes analysed

Also known as

SCBMS; seizures, cortical blindness, microcephaly syndrome

MONDO:0014714OMIM 616632Orphanet 477814MedGen 1799073Sources: [1][2][3]

References

  1. Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN et al., 2016. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. American journal of medical genetics. Part A
  2. Esmaeilzadeh E, Biglari S, Mosallaei M, Khorshid HRK, Vahidnezhad H, Tabatabaiefar MA, 2024. A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Molecular genetics & genomic medicine
  3. Özlem A, Şirin S, İpek Demir K, Kolkıran A, Kablan A, Ulusoy Severcan E et al., 2026. Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma. Pediatric allergy, immunology, and pulmonology

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