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intellectual developmental disorder, autosomal recessive 76 (MRT76) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 76

MONDO:0030968

Also known as:MRT76mental retardation, autosomal recessive 76

Overview

GeneticsAutosomal recessive · GRIA1 (chr 5)

OnsetINFANTILE

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Absent speech, Feeding difficulties, Seizure, and Sleep disturbance and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Absent speech, Seizure, Delayed fine motor development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GRIA1 encodes glutamate ionotropic receptor AMPA type subunit 1 (906 aa). Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid. Highest expression in Brain Cerebellum (76.7 TPM) and Brain Cerebellar Hemisphere (41.8 TPM).

Intellectual developmental disorder, autosomal recessive 76 is associated with mutations in the GRIA1 gene on chromosome 5.

The GRIA1 protein participates in CNIH2,3 bind GRIA1 and p-S849-GRIA1:GRIA2 AMPA receptor pathways.

GRIA1 is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Ion Channel categories) with score 1.7.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for GRIA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal recessive 76 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 76.

2 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 76. Research spans Diagnostic / Biomarker (50%) and Clinical Trial Publication (50%).

Recent Publications

Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Diagnostic / Biomarker]
Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatr Neurol*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619931

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual developmental disorder, autosomal recessive 76

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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