Features include always present findings: Small scrotum, Cutaneous syndactyly, Convex nasal ridge, and Low-set ears and others; and common findings: Oligohydramnios, Bilateral renal agenesis, Abnormal lung lobation, and Ascites and others.

GRIP1 encodes glutamate receptor interacting protein 1 (1,128 aa). May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons. Highest expression in Skin Not Sun Exposed Suprapubic (5.6 TPM) and Skin Sun Exposed Lower leg (5.2 TPM).

Fraser syndrome 3 is caused by mutations in the GRIP1 gene on chromosome 12.

The GRIP1 protein participates in Trafficking of GluR2-containing AMPA receptors pathway.

GRIP1 is classified as a druggable target with score 0.0.

Genetic testing for GRIP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Fraser syndrome 3 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 13 common features.

No clinical trials have been registered for Fraser syndrome 3.

63 publications have been identified in PubMed for Fraser syndrome 3. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (21%), and Clinical Trial Publication (17%).