GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Synonyms: GRIN2B-Related Neurodevelopmental Disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | GRIN2B-Related Neurodevelopmental Disorder |
| fr | Retard de développement, déficience intellectuelle et trouble du spectre de l'autisme associés à GRIN2B | Trouble neurologique du développement associé à GRIN2B |
| de | GRIN2B-assoziierte Entwicklungsverzögerung mit Intelligenzminderung und Autismus-Spektrum-Störung | Neurologische Entwicklungsstörung, GRIN2B-assoziierte |
| es | Retraso del desarrollo, discapacidad intelectual y trastorno del espectro autista asociados al gen GRIN2B | Trastorno del neurodesarrollo asociado a GRIN2B · Trastorno del neurodesarrollo asociado al gen GRIN2B |
| it | Ritardo dello sviluppo, disabilit intellettiva, disturbo dello spettro autistico correlati a GRIN2B | |
| nl | GRIN2B-gerelateerde ontwikkelingsachterstand, intellectuele achterstand en autismespectrumstoornis | GRIN2B-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Perturbação do desenvolvimento, perturbação do desenvolvimento intelectual e espectro clínico de autismo GRIN2B-relacionada | Doença do neurodesenvolvimento GRIN2B-relacionada |
| pl | Niepełnosprawność intelektualna, zaburzenie ze spektrum autyzmu oraz opóżnienie rozwoju związane z GRIN2B | Związane z GRIN2B opóźnienie rozwoju, niepełnosprawność intelektualna i zaburzenia ze spektrum autyzmu |
| cs | Vývojové opoždění, mentální retardace a porucha autistického spektra související s GRIN2B | = en |
| uk | Затримка розвитку, інтелектуальна недостатність та розлади аутистичного спектру, повязані з GRIN2B | Розлад нейророзвитку, повязаний з GRIN2B |
| zh | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | |
| tr | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613970 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0035122 | E | validated | |
| MONDO | 13509 | E | validated | |
| MONDO | 35122 | E | validated | |
| UMLS | C5681638 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIN2B | Disease-causing germline mutation(s) in | Assessed | HGNC:4586 | ENSG00000273079 | 138252 | 12p13.1 | glutamate ionotropic receptor NMDA type subunit 2B | 29851452[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 98 cases | Worldwide | Case(s) | Validated | 28377535[PMID]_31085877[PMID]_34568804[PMID]_34615535[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589547
- This record as JSON: /data/d/589547.json