ORPHA:269573
Genetic syndrome with corpus callosum agenesis/dysgenesis 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 | Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature | |
| fr | Syndrome génétique avec une agénésie/dysgénésie du corps calleux comme manifestation majeure | |
| de | Genetisch bedingtes Syndrom mit Corpus callosum-Agenesie/Dysgenesie als Hauptmerkmal | |
| es | Síndrome genético con agenesia/disgenesia del cuerpo calloso como característica principal | |
| it | Sindrome genetica con agenesia/disgenesia del corpo calloso come segno cardinale | |
| nl | Genetisch syndroom met agenesie/dysgenesie van corpus callosum als hoofdkenmerk | |
| pt | Síndrome genético com agenesia/disgenesia do corpo caloso como característica principal | |
| pl | Zespół genetyczny z agnezją/dysgenezją ciała modzelowatego jako głównym objawem | |
| cs | Geneticky podmíněný syndrom s agenezí/dysgenezí corpus callosum jako hlavním příznakem | |
| uk | Генетично обумовлений синдром з агенезією/дисгенезією мозолистого тіла як основною ознакою | |
| zh | 以胼胝体不发育/发育不全为主要特征的遗传综合征 | |
| tr | Esas klinik özelliği korpus kallozum agenezi/disgenezi olan genetik sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17122 | E | validated | |
| UMLS | C5680764 | 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):
Children (23):
- ORPHA:423655ARX-related encephalopathy-brain malformation spectrum
- ORPHA:36Acrocallosal syndrome
- ORPHA:50Aicardi syndrome
- ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- ORPHA:459074Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- ORPHA:1496Corpus callosum agenesis-neuronopathy syndrome
- ORPHA:714404Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome
- ORPHA:724143Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome
- ORPHA:726684Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome
- ORPHA:457284Houge-Janssens syndrome type 2
- ORPHA:447893Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
- ORPHA:1495Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:694937Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
- ORPHA:275543L1 syndrome
- ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- ORPHA:2510Micro syndrome
- ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- ORPHA:1083Microlissencephaly
- ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:1777Temtamy syndrome
- ORPHA:3338Toriello-Carey syndrome
- ORPHA:467166Tubulinopathy-associated dysgyria
- ORPHA:1493Vici 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/269573
- This record as JSON: /data/d/269573.json