ORPHA:689422
Okur-Chung neurodevelopmental syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- 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 | Okur-Chung neurodevelopmental syndrome | |
| fr | Syndrome neurodéveloppemental d'Okur-Chung | Syndrome du neuro-developpement Okur-Chung |
| de | Okur-Chung-Syndrom | CSNK2A1-assoziierte neurologische Entwicklungsstörung · Syndromale neurologische Entwicklungsstörung Typ Okur-Chung |
| es | Síndrome del neurodesarrollo de Okur-Chung | |
| it | Malattia del neurosviluppo di Okur-Chung | |
| nl | Neurologisch ontwikkelingssyndroom van Okur-Chung | |
| pt | Síndrome Okur-Chung do neurodesenvolvimento | |
| pl | Zespół neurorozwojowy Okura-Chunga | |
| cs | Okur-Chungové neurovývojový syndrom | Okurův-Chungové neurovývojový syndrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617062 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| MONDO | 14893 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | 38444259[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38444259[PMID]_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/689422
- This record as JSON: /data/d/689422.json