Features include always present findings: Astigmatism, Blepharochalasis, Narrow palate, and Long philtrum and others; and common findings: Low muscle tone (hypotonia), Dental crowding, Bruising susceptibility, and Bladder diverticulum and others. 45 total HPO annotations.

EFEMP1 encodes EGF-like fibulin extracellular matrix protein 1 (493 aa). Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. Highest expression in Artery Aorta (1,496 TPM) and Artery Coronary (856.1 TPM).

Cutis laxa, autosomal recessive, type 1d is associated with mutations in the EFEMP1 gene on chromosome 2.

EFEMP1 is classified as a druggable target (Druggable Genome and Growth Factor categories) with score 0.0.

Genetic testing for EFEMP1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 28 always present features, 10 common features.