Features include always present findings: Fetal pleural effusion, Fetal ascites, Fetal chylothorax, and Lymphedema; and common findings: Pleural thickening, Polyhydramnios, Fetal pericardial effusion, and Hydrocele testis and others. 13 total HPO annotations.

MDFIC encodes MyoD family inhibitor domain containing (246 aa). Required to control the activity of various transcription factors through their sequestration in the cytoplasm. Highest expression in Cells EBV-transformed lymphocytes (70.7 TPM) and Adipose Subcutaneous (39.0 TPM).

Lymphatic malformation 12 is associated with mutations in the MDFIC gene on chromosome 7.

MDFIC is classified as a druggable target with score 0.0.

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

Biomarker and diagnostic research for lymphatic malformation 12 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 7 common features.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

159 publications have been identified in PubMed for lymphatic malformation 12. Research spans Case Report / Case Series (37%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (14%).