ORPHA:693549
Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome
Synonyms: CEBALID · Craniofacial defects-dysmorphic ears-brain abnormalities-language delay-intellectual disability · MCTT · MN1 C-terminal truncation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- 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-Intellectual disability-rhombencephalosynapsis syndrome | CEBALID · Craniofacial defects-dysmorphic ears-brain abnormalities-language delay-intellectual disability · MCTT · MN1 C-terminal truncation syndrome |
| fr | Syndrome de dysmorphie faciale-déficience intellectuelle-rhombencéphalosynapsis | CEBALID · MCTT |
| de | Gesichtsdysmorphien-Intelligenzminderung-Rhombenzephalosynapsis-Syndrom | CEBALID-Syndrom · Kraniofaziale Defekte-dysmorphe Ohren-Hirnanomalien-verzögerte Sprachentwicklung-Intelligenzminderung-Syndrom |
| es | Síndrome de dismorfia facial-discapacidad intelectual-romboencefalosinapsis | CEBALID · Defectos craneofaciales-orejas dismórficas-anomalías cerebrales-retraso del lenguaje-discapacidad intelectual · MCTT · Síndrome CEBALID · Síndrome de truncamiento C-terminal de MN1 · Síndrome de truncamiento C-terminal del gen MN1 |
| it | Sindrome dismorfismi facciali-disabilità intellettiva-romboencefalosinapsi | CEBALID · Difetti craniofacciali-orecchie dismorfiche-anomalie cerebrali-ritardo del linguaggio-disabilità intellettiva · MCTT · Sindrome da troncamento C-terminale di MN1 |
| nl | Faciale dysmorfie - intellectuele achterstand - rombencefalosynapsis-syndroom | CEBALID · Craniofaciale defecten - dysmorfe oren - hersenafwijkingen - taalachterstand - intellectuele achterstand · MCTT · Syndroom door C-terminale truncatie van MN1 |
| pt | Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-romboencefalosinapse | CEBALID · Defeitos craniofaciais-orelhas dismórficas-anomalias cerebrais-atraso linguagem-perturbação do desenvolvimento intelectual · MCTT · Síndrome de truncagem MN1 C-terminal |
| pl | Zespół dysmorfii twarzy, niepełnosprawności intelektualnej i aplazji robaka z połączeniem półkul móżdżku | = en |
| cs | Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618774 | 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:730699Genetic syndromic rhombencephalosynapsis
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:729538Syndromic rhombencephalosynapsis
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 |
|---|---|---|---|---|---|---|---|---|
| MN1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7180 | ENSG00000169184 | 156100 | 22q12.1 | MN1 proto-oncogene, transcriptional regulator | 31834374[PMID]_31839203[PMID]_37575653[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 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/693549
- This record as JSON: /data/d/693549.json