Isolated global cerebellar hypoplasia
Synonyms: Isolated generalized cerebellar hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare isolated cerebellar malformation characterized by a normal shape but reduced volume of the cerebellar vermis and hemispheres with no other neurological anomalies or extracerebral congenital malformations. The majority of patients present with impaired ambulation, global developmental delay, with or without intellectual disability. Other signs might include hypotonia, truncal, appendicular and gait ataxia, as well as oculomotor abnormalities.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated global cerebellar hypoplasia | Isolated generalized cerebellar hypoplasia |
| fr | Hypoplasie globale isolée du cervelet | Hypoplasie généralisée isolée du cervelet |
| de | Isolierte globale zerebelläre Hypoplasie | Isolierte generalisierte Kleinhirnhypoplasie |
| es | Hipoplasia cerebelosa global aislada | Hipoplasia cerebelosa generalizada aislada |
| it | Ipoplasia cerebellare globale isolata | Ipoplasia cerebellare generalizzata isolata |
| nl | Geïsoleerde algehele cerebellaire hypoplasie | Geïsoleerde gegeneraliseerde cerebellaire hypoplasie |
| pt | Isolated global cerebellar hypoplasia | |
| pl | Isolated global cerebellar hypoplasia | = en |
| cs | Isolated global cerebellar hypoplasia | = en |
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:269224Global cerebellar malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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 |
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/727803
- This record as JSON: /data/d/727803.json