Isolated bilateral hemispheric cerebellar hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated bilateral hemispheric cerebellar hypoplasia | |
| fr | Hypoplasie isolée bilatérale des hémisphères cérébelleux | |
| de | Zerebelläre hemisphärische Hypoplasie, isoliert bilaterale | |
| es | Hipoplasia hemisférica cerebelosa bilateral aislada | |
| it | Ipoplasia cerebellare emisferica bilaterale isolata | |
| nl | Geïsoleerde bilaterale hypoplasie van cerebellaire hemisfeer | Geïsoleerde bilaterale hypoplasie van kleinehersenhelft |
| pt | Hipoplasia dos hemisférios cerebelosos bilateral isolada | |
| pl | Izolowana obustronna hipoplazja półkul móżdżku | |
| cs | Izolovaná bilaterální hemisferická mozečková hypoplázie | |
| uk | Ізольована двобічна півкульна гіпоплазія мозочка | |
| zh | 孤立性双侧小脑半球发育不全 | |
| tr | İzole bilateral hemisferik serebellar hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA06.1 | NTBT | index | validated |
| MONDO | 0017113 | E | validated | |
| UMLS | C4749791 | 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:98516Malformation of the cerebellar hemispheres
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 | Not yet 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/269221
- This record as JSON: /data/d/269221.json