Features include always present findings: Low white blood cell count (decreased total leukocyte count), Low red blood cell count (anemia), Bone marrow hypocellularity, and Low platelet count (thrombocytopenia); and common findings: Microcephaly and Neonatal hypotonia. 7 total HPO annotations.

ERCC6L2 encodes ERCC excision repair 6 like 2 (1,561 aa). Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair. Highest expression in Nerve Tibial (8.8 TPM) and Cervix Ectocervix (7.6 TPM).

Pancytopenia-developmental delay syndrome is associated with mutations in the ERCC6L2 gene on chromosome 9.

ERCC6L2 is classified as a druggable target with score 0.0.

Genetic testing for ERCC6L2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pancytopenia-developmental delay syndrome has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 common features.

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

No clinical trials have been registered for pancytopenia-developmental delay syndrome.

259 publications have been identified in PubMed for pancytopenia-developmental delay syndrome. Kisho has analyzed 194 by research type. Research spans Case Report / Case Series (32%), Review / Meta-Analysis (31%), and Basic Science / Preclinical (19%).