Features include always present findings: Hypoplasia of the corpus callosum, Seizure, Global developmental delay, and Cerebral visual impairment and others; and very common findings: Microcephaly, Progressive microcephaly, and Profound intellectual disability. 26 total HPO annotations.

DIAPH1 encodes diaphanous related formin 1 (1,272 aa). Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Highest expression in Cells EBV-transformed lymphocytes (99.7 TPM) and Muscle Skeletal (95.6 TPM).

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is caused by mutations in the DIAPH1 gene on chromosome 5.

The DIAPH1 protein participates in ZMYM2(1-1059)-p-4Y-FLT3(594-993) fusion, ZMYM2(1-1057)-p-5Y-FLT3(586-993) fusion, and ZMYM2(1-1059)-FLT3(594-993) fusion pathways.

DIAPH1 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for DIAPH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for progressive microcephaly-seizures-cortical blindness-developmental delay syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 3 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for progressive microcephaly-seizures-cortical blindness-developmental delay syndrome.

208 publications have been identified in PubMed for progressive microcephaly-seizures-cortical blindness-developmental delay syndrome. Kisho has analyzed 20 by research type. Research spans Review / Meta-Analysis (70%), Case Report / Case Series (10%), and Gene Therapy / Novel Therapeutics (10%).