ORPHA:411986
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Synonyms: Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome |
| fr | Syndrome d'encéphalopathie épileptique infantile précoce-cécité corticale-déficience intellectuelle-dysmorphie faciale | Syndrome d'épilepsie-cécité corticale-déficience intellectuelle-dysmorphie faciale |
| de | Frühinfantile epileptische Enzephalopathie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom | Epilepsie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom |
| es | Síndrome de encefalopatía epiléptica-ceguera cortical-discapacidad intelectual-dismorfia facial de inicio precoz | Síndrome de epilepsia-ceguera cortical-discapacidad intelecutal-dismorfia facial |
| it | Sindrome da encefalopatia epilettica ad esordio precoce, cecità corticale, disabilità intellettiva e dismorfismi facciali | Sindrome epilessia-cecità corticale-disabilità cognitiva-dismorfismi facciali |
| nl | Vroeg optredende epileptische encefalopathie - corticale blindheid - intellectuele achterstand - faciale dysmorfie-syndroom | Epilepsie - corticale blindheid - intellectuele achterstand - faciale dysmorfie-syndroom |
| pt | Síndrome de encefalopatia epilética de início precoce-cegueira cortical-perturbação do desenvolvimento intelectual-dismorfia facial | |
| pl | Zespół encefalopatia padaczkowa o wczesnym początku-ślepota korowa-niepełnosprawność intelektualna-dysmorfia twarzy | Zespół padaczka ślepota korowa-niepełnosprawność intelektualna-dysmorfia twarzy |
| cs | Syndrom zahrnující epileptickou encefalopatii s časným nástupem, kortikální slepotu, mentální retardaci a faciální dysmorfismus | Syndrom zahrnující epilepsii, kortikální slepotu, mentální retardaci a faciální dysmorfismus |
| uk | Синдром ранньої епілептичної енцефалопатії-кортікальної сліпоти-інтелектуальної недостатності- дизморфізму обличчя | Синдром епілепсії-кортикальної сліпоти-інтелектуальної недостатності- дисморфізму обличчя |
| zh | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | 癫痫-皮质盲-智力障碍-面部畸形综合征 |
| tr | Erken başlangıçlı epileptik ensefalopati-kortikal körlük-zihinsel yetersizlik-yüz dismorfizm sendromu | Epilepsi-kortikal körlük-zihinsel yetersizlik-fasiyal dismorfizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615859 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0014371 | E | validated | |
| UMLS | C4750952 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOCK7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19190 | ENSG00000116641 | 615730 | 1p31.3 | dedicator of cytokinesis 7 | 24814191[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24814191[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24814191[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.
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HPO phenotypes
36 annotations · validated 2019-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000455 | Broad nasal tip | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0001249 | Intellectual disability | |
| HP:0000294 | Low anterior hairline | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0012105 | Occipital cortical atrophy | |
| HP:0000629 | Periorbital fullness | |
| HP:0002465 | Poor speech | |
| HP:0000817 | Reduced eye contact | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0040159 | Abnormal spaced incisors | |
| HP:0000528 | Anophthalmia | |
| HP:0010819 | Atonic seizure | |
| HP:0000414 | Bulbous nose | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001252 | Hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002540 | Inability to walk | |
| HP:0012469 | Infantile spasms | |
| HP:0009748 | Large earlobe | |
| HP:0000527 | Long eyelashes | |
| HP:0001336 | Myoclonus | |
| HP:0000341 | Narrow forehead | |
| HP:0009904 | Prominent ear helix | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000322 | Short philtrum | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0012471 | Thick vermilion border | |
Annotation source: 24814191[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411986
- This record as JSON: /data/d/411986.json