ORPHA:708171
Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy
Synonyms: WWOX-related epileptic encephalopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy | WWOX-related epileptic encephalopathy |
| fr | Syndrome de dysmorphie faciale-hypoplasie du corps calleux-encéphalopathie épileptique infantile | Encéphalopathie épileptique associée à WWOX |
| de | Gesichtsdysmorphie-Corpus Callosum-Hypoplasie-Infantile epileptische Enzephalopathie-Syndrom | Enzephalopathie, epileptische, WWOX-assoziierte |
| es | Síndrome de dismorfia facial-hipoplasia del cuerpo calloso-encefalopatía epiléptica infantil | Encefalopatía epiléptica asociada a WWOX |
| it | Dismorfismi facciali-ipoplasia del corpo calloso-encefalopatia epilettica infantile | Encefalopatia epilettica correlata a WWOX |
| nl | Faciale dysmorfie - hypoplasie van corpus callosum - infantiele epileptische encefalopathie | WWOX-gerelateerde epileptische encefalopathie |
| pt | Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy | |
| pl | Dysmorfia twarzy – hipoplazja ciała modzelowatego – encefalopatia padaczkowa niemowlęca | = en |
| cs | Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616211 | 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 (4):
- 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:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WWOX | Disease-causing germline mutation(s) in | Assessed | HGNC:12799 | ENSG00000186153 | 605131 | 16q23.1-q23.2 | WW domain containing oxidoreductase | 25411445[PMID]_38161429[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708171
- This record as JSON: /data/d/708171.json