progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Findings
No curated finding names progressive microcephaly-seizures-cortical blindness-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014714), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral visual impairmentHPOHP:0100704
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 5 of 5 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DIAPH1HGNC:2876
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Also called
- SCBMSseizures, cortical blindness, microcephaly syndrome