Features include always present findings: Vomiting, Abdominal distention, Congenital shortened small intestine, and Failure to thrive and others; and common findings: Projectile vomiting. 14 total HPO annotations.

CLMP encodes CXADR like cell adhesion molecule (373 aa). May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development Highest expression in Cells Cultured fibroblasts (152.0 TPM) and Esophagus Muscularis (85.2 TPM).

Congenital short bowel syndrome, autosomal recessive is associated with mutations in the CLMP gene on chromosome 11.

CLMP is classified as a druggable target (Cell Surface category) with score 0.0.

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

Biomarker and diagnostic research for congenital short bowel syndrome, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 1 common feature.

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

115 publications have been identified in PubMed for congenital short bowel syndrome, autosomal recessive. Research spans Case Report / Case Series (37%), Review / Meta-Analysis (16%), and Epidemiology / Natural History (15%).