Isolated cerebellar vermis agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated cerebellar vermis agenesis | |
| fr | Agénésie isolée du vermis cérébelleux | |
| de | Isolierte Agenesie des Kleinhirnwurmes | |
| es | Agenesia aislada del vermis cerebeloso | |
| it | Agenesia isolata del verme cerebellare | |
| nl | Geïsoleerde cerebellaire vermis-agenesie | |
| pt | Agenesia do vermis cerebeloso isolada | |
| pl | Izolowana agnezja robaka móżdżku | |
| cs | Izolovaná ageneze mozečkové vermis | Izolovaná ageneze vermis cerebela · Izolovaná ageneze vermis mozečku |
| uk | Ізольована агенезія червяка мозочка | |
| zh | 孤立性小脑蚓部发育不全 | |
| tr | İzole serebellar vermis agenezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0017107 | E | validated | |
| UMLS | C5680776 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98514Malformation of the cerebellar vermis
rare developmental anomalies during embryogenesis; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_10488899[PMID]_7724272[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269203
- This record as JSON: /data/d/269203.json