GRM7 encodes glutamate metabotropic receptor 7 (915 aa). G-protein coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development. Highest expression in Brain Frontal Cortex BA9 (4.9 TPM) and Brain Hypothalamus (3.7 TPM).

Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities is associated with mutations in the GRM7 gene on chromosome 3.

GRM7 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 26.1.

Genetic testing for GRM7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 5 very common features, 9 common features.

No clinical trials have been registered for neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities.

42 publications have been identified in PubMed for neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (13%).

Recent Publications

• Swaroop S (2026). [PMID: 41769439](https://pubmed.ncbi.nlm.nih.gov/41769439/). *Cureus*. [Case Report / Case Series]

• Nou-Fontanet L (2026). [PMID: 41933351](https://pubmed.ncbi.nlm.nih.gov/41933351/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]

• Cinelli G (2026). [PMID: 42059486](https://pubmed.ncbi.nlm.nih.gov/42059486/). *Am J Med Genet A*. [Epidemiology / Natural History]

• Wilke MVMB (2026). [PMID: 40799153](https://pubmed.ncbi.nlm.nih.gov/40799153/). *Am J Med Genet A*. [Case Report / Case Series]

• Dehani M (2026). [PMID: 42185686](https://pubmed.ncbi.nlm.nih.gov/42185686/). *Neurol Sci*. [Review / Meta-Analysis]

• Aygün H (2026). [PMID: 41971559](https://pubmed.ncbi.nlm.nih.gov/41971559/). *Mol Syndromol*. [Case Report / Case Series]

• Luo J (2026). [PMID: 41819009](https://pubmed.ncbi.nlm.nih.gov/41819009/). *Seizure*. [Review / Meta-Analysis]

• Ahmad SR (2026). [PMID: 40726340](https://pubmed.ncbi.nlm.nih.gov/40726340/). *Clin Genet*. [Case Report / Case Series]

• Peter B (2026). [PMID: 40891523](https://pubmed.ncbi.nlm.nih.gov/40891523/). *Am J Med Genet A*. [Case Report / Case Series]

• Abdel-Ghafar SF (2026). [PMID: 41025723](https://pubmed.ncbi.nlm.nih.gov/41025723/). *Clin Genet*. [Case Report / Case Series]