ORPHA:269523
Syndrome with a cerebellar malformation as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome with a cerebellar malformation as a major feature | |
| fr | Syndrome avec malformation du cervelet comme manifestation majeure | |
| de | Syndrom mit zerebellärer Fehlbildung als Hauptmerkmal | |
| es | Síndrome con malformación del cerebelo como característica principal | |
| it | Sindrome con malformazione cerebellare come segno cardinale | |
| nl | Syndroom met cerebellaire malformatie als hoofdkenmerk | |
| pt | Síndrome com uma malformação cerebelosa como característica principal | |
| pl | Zespół z malformacją móżdżku jako głównym objawem | |
| cs | Syndromy s malformací mozečku jako hlavním příznakem | |
| uk | Синдром з вадою розвитку мозочка як основною ознакою | |
| zh | 以小脑畸形为主要特征的综合征 | |
| tr | Esas klinik özelliği serebellar malformasyon olan sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17118 | E | validated | |
| UMLS | C5680775 | 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 (1):
- ORPHA:182061Cerebellar malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (32):
- ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- ORPHA:727820Brainstem disconnection syndrome
- ORPHA:2246Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- ORPHA:444072Cerebellar-facial-dental syndrome
- ORPHA:495875Cerebello-oculo-facio-genital syndrome
- ORPHA:314597Chudley-McCullough syndrome
- ORPHA:611223EN1-related dorsoventral syndrome
- ORPHA:726677Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome
- ORPHA:726684Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome
- ORPHA:3322Hoyeraal-Hreidarsson syndrome
- ORPHA:1397Hydrocephaly-cerebellar agenesis syndrome
- ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:140874Joubert syndrome
- ORPHA:580933Lethal brain and heart developmental defects
- ORPHA:439897Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- ORPHA:65285Lhermitte-Duclos disease
- ORPHA:727881Medullary tegmental cap dysplasia
- ORPHA:443162NDE1-related microhydranencephaly
- ORPHA:42775PHACE syndrome
- ORPHA:401959Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- ORPHA:300573Polymicrogyria due to TUBB2B mutation
- ORPHA:2941Porencephaly-cerebellar hypoplasia-internal malformations syndrome
- ORPHA:2703Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- ORPHA:468699SLC39A8-CDG
- ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:729538Syndromic rhombencephalosynapsis
- ORPHA:467166Tubulinopathy-associated dysgyria
- ORPHA:1493Vici syndrome
- ORPHA:163961X-linked cerebral-cerebellar-coloboma syndrome
- ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome
- ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269523
- This record as JSON: /data/d/269523.json