Are there treatments for GRIN-related complex neurodevelopmental disorder?

Information about treatment is currently limited for this condition.

What are the common complications associated with GRIN-related complex neurodevelopmental disorder?

People with GRIN-related complex neurodevelopmental disorder can face various complications. These may include developmental delays, seizures, and challenges with movement and speech. Because symptoms can vary widely, some individuals may also experience behavioral issues or intellectual disabilities, making each case unique.

How does GRIN-related complex neurodevelopmental disorder affect daily life and management?

Living with GRIN-related complex neurodevelopmental disorder can be challenging. Daily life may involve therapies for speech, movement, and learning, as well as managing any seizures. Families often need to work closely with healthcare providers to create a supportive environment that addresses the specific needs of their loved one.

What is the prognosis for individuals with GRIN-related complex neurodevelopmental disorder?

Currently, information about the prognosis for GRIN-related complex neurodevelopmental disorder is limited. The outcome can vary greatly depending on the specific symptoms and severity experienced by each individual. Ongoing research may provide more insights into long-term expectations in the future.

Are there specific specialists recommended for managing GRIN-related complex neurodevelopmental disorder?

Families dealing with GRIN-related complex neurodevelopmental disorder may benefit from a team of specialists. This can include neurologists for seizure management, speech therapists for communication challenges, and occupational therapists for movement issues. Working with a multidisciplinary team can help address the diverse needs of individuals with this condition.

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GRIN-related complex neurodevelopmental disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

GRIN-related complex neurodevelopmental disorder

MONDO:1060138

Overview

A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

GRIN2D-related developmental and epileptic encephalopathy (GRIN2D-related DEE) is characterized by mild-to-profound developmental delay or intellectual disability, epilepsy, abnormal muscle tone (hypotonia and spasticity), movement disorders (dystonia, dyskinesia, chorea), autism spectrum disorder, and cortical visual impairment. Additional findings can include sleep disorders and feeding difficulties. To date, a pathogenic missense variant in GRIN2D has been identified in 22 individuals [, , , , , ] and an additional four unpublished individuals enrolled in the GRIN Portal/Registry. The following description of the phenotypic features associated with this condition is based on these reports. Developmental delay / intellectual disability.

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.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for GRIN2D-related developmental and epileptic encephalopathy (GRIN2D-related DEE) have been published.

Suggestive Findings

GRIN2D-related DEE should be considered in individuals with the following clinical and/or brain MRI findings.

Clinical findings

Mild-to-profound developmental delay (DD) or intellectual disability (ID); AND

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for GRIN-related complex neurodevelopmental disorder. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for GRIN2D-related DEE have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with GRIN2D-related DEE, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with GRIN2D-Related DEE

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with GRIN2D-Related DEE

System/Concern

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 GRIN-related complex neurodevelopmental disorder.

2 publications have been identified in PubMed for GRIN-related complex neurodevelopmental disorder. Research spans Basic Science / Preclinical (100%).

Recent Publications

Yam M (2026). [PMID: 40277233](https://pubmed.ncbi.nlm.nih.gov/40277233/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Li C (2025). [PMID: 40423426](https://pubmed.ncbi.nlm.nih.gov/40423426/). *Toxics*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about GRIN-related complex neurodevelopmental disorder

GRIN-related complex neurodevelopmental disorder is a group of conditions that affect the brain and development. These conditions are caused by changes in genes that make parts of the NMDA receptor, which is important for brain communication. The disorder is linked with a range of challenges and can affect movement, speech, and cognitive abilities. The severity and specific problems vary from person to person. Some people may experience developmental delays or difficulties with learning, while others may have issues with seizures, movement, or behavior. The wide variety of symptoms makes each case unique.

People with this condition may experience developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairments, and neuropsychiatric challenges. The range and severity of these symptoms can differ based on the specific gene mutation present.

The condition is caused by pathogenic variants in genes that encode subunits of the NMDA receptor. Changes in genes such as GRIN1, GRIN2A, GRIN2B, and GRIN2D can affect how the receptor works, which in turn can influence brain development and function. This genetic alteration underlies the diverse symptoms seen in the disorder. Associated genes include GRIN2D.

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System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	Incl: clinical eval for mvmt disorders, seizures; EEG, brain MRI
Vision	Ophthalmologic eval	To assess for vision, abnormal ocular mvmt, best corrected visual acuity, refractive errors, strabismus Gastrointestinal/
Feeding	Gastroenterology / nutrition / feeding team eval	To incl eval of aspiration risk nutritional status, weight gain, constipation GERD; Consider eval for gastric tube placement in those w/dysphagia /or aspiration risk.
Musculoskeletal	Orthopedics / physical medicine rehab / PT/OT eval	Exam for muscular hypotonia, spasticity, scoliosis; to incl assessment of:; Gross motor fine motor skills; Contractures, clubfoot, kyphoscoliosis; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Development	Developmental assessment	To incl motor, adaptive, cognitive speech/language eval; Eval for early intervention / special education Psychiatric/
Behavioral	Neuropsychiatric eval	In persons age 12 mos: screen for presence of behavioral problems incl sleep disturbances, ADHD, anxiety, /or traits suggestive of ASD. Ethics
consultation	Clinical ethics services	Assess healthcare decisions in context of best interest of child family's values preferences. Genetic
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of GRIN2D-DEE in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with GRIN2D-Related DEE Manifestation/Concern	Treatment	Considerations/Other
DD/ID	See .	—
Central visual impairment	No specific treatment; early intervention w/vision therapy may help to stimulate visual development.	—
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; no ASM has been demonstrated effective specifically for this disorder.; Education of parents / care givers1
Poor weight gain	Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval /or radiographic swallowing study if clinical signs of dysphagia
Muscular hypotonia, spasticity, movement disorder	Orthopedics / physical medicine rehab / PT/OT incl stretching to help avoid contractures falls.	Consider need for positioning mobility devices, disability parking placard. ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy Education of parents regarding common seizure presentations is appropriate.

Kisho

GRIN-related complex neurodevelopmental disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

GRIN-related complex neurodevelopmental disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is GRIN-related complex neurodevelopmental disorder?

What are the symptoms of GRIN-related complex neurodevelopmental disorder?

What causes GRIN-related complex neurodevelopmental disorder?

How is GRIN-related complex neurodevelopmental disorder diagnosed?

Are there treatments for GRIN-related complex neurodevelopmental disorder?

What are the common complications associated with GRIN-related complex neurodevelopmental disorder?

How does GRIN-related complex neurodevelopmental disorder affect daily life and management?

What is the prognosis for individuals with GRIN-related complex neurodevelopmental disorder?

Are there specific specialists recommended for managing GRIN-related complex neurodevelopmental disorder?

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials