ORPHA:488613
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | |
| fr | Syndrome de retard global de développement-anomalies neuro-ophtalmologiques-épilepsie-déficience intellectuelle | |
| de | Allgemeine Entwicklungsverzögerung-neuroophthalmologische Anomalien-Krämpfe-Intelligenzminderung-Syndrom | |
| es | Síndrome de retraso global del desarrollo-anomalías neurooftalmológicas-crisis-discapacidad intelectual | |
| it | Sindrome ritardo dello sviluppo globale-anomalie neuro-oculari-crisi epilettiche-disabilità intellettiva | |
| nl | Algemene ontwikkelingsachterstand - neuro-oftalmologische afwijkingen - insulten - intellectuele achterstand-syndroom | |
| pt | Síndrome de perturbação global do desenvolvimento-anormalias neuro-oftalmológicas-convulsões-perturbação do desenvolvimento intelectual | |
| pl | Zespół całościowego zaburzenia rozwoju, wad neuro-ocznych, drgawek oraz niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující celkové opoždění vývoje, neuro-oftalmologické abnormality, záchvaty a mentální retardaci | |
| uk | Синдром глобальної затримки розвитку-нейро-офтальмологічних порушень-судом- інтелектуальної недостатності | |
| zh | 全球发育迟缓-神经-眼异常-癫痫发作-智力障碍综合征 | |
| tr | Yaygın gelişme geriliği-nöro-oftalmolojik anormallikler-nöbetler-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616973 | BTNT | validated | |
| ICD-10 | F84.8 | NTBT | attributed | not yet validated |
| MONDO | 0024252 | E | validated | |
| MONDO | 14855 | E | validated | |
| MONDO | 24252 | E | validated | |
| UMLS | C5567482 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4396 | ENSG00000078369 | 139380 | 1p36.33 | G protein subunit beta 1 | 27108799[PMID]_28087732[PMID]_27668284[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 28087732[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28087732[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
29 annotations · validated 2019-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001290 | Generalized hypotonia | Diagnostic criterion |
| HP:0001263 | Global developmental delay | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0002474 | Expressive language delay | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | Diagnostic criterion |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0001250 | Seizure | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000175 | Cleft palate | |
| HP:0002376 | Developmental regression | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0008947 | Floppy infant | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0007772 | Impaired smooth pursuit | Diagnostic criterion |
| HP:0002540 | Inability to walk | |
| HP:0002509 | Limb hypertonia | |
| HP:0000639 | Nystagmus | |
| HP:0000486 | Strabismus | Diagnostic criterion |
| Very rare (<4-1%) | ||
| HP:0012448 | Delayed myelination | |
| HP:0000396 | Overfolded helix | |
| HP:0000767 | Pectus excavatum | |
| HP:0002126 | Polymicrogyria | |
| Excluded (0%) | ||
| HP:0000252 | Microcephaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25485910[PMID]_28087732[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488613
- This record as JSON: /data/d/488613.json