Isolated cerebellar vermis hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated cerebellar vermis hypoplasia | |
| fr | Hypoplasie isolée du vermis cérébelleux | |
| de | Vermishypoplasie, isolierte zerebelläre | |
| es | Hipoplasia aislada del vermis cerebeloso | |
| it | Ipoplasia isolata del verme cerebellare | |
| nl | Geïsoleerde hypoplasie van vermis cerebelli | |
| pt | Hipoplasia do vermis cerebeloso isolada | |
| pl | Izolowana hipoplazja robaka móżdżku | |
| cs | Izolovaná hypoplázie vermis mozečku | |
| uk | Ізольована гіпоплазія червяка мозочка | |
| zh | 孤立性小脑蚓部发育不全 | |
| tr | İzole serebellar vermis hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0016053 | E | validated | |
| UMLS | C4707794 | 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199630
- This record as JSON: /data/d/199630.json