ORPHA:100015
Lissencephaly with cerebellar hypoplasia type E
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly with cerebellar hypoplasia type E | |
| fr | Lissencéphalie-hypoplasie cérébelleuse type E | |
| de | Lissenzephalie mit zerebellärer Hypoplasie Typ E | |
| es | Lisencefalia con hipoplasia cerebelosa tipo E | |
| it | Lissencefalia con ipoplasia cerebellare tipo E | |
| nl | Lissencefalie met cerebellaire hypoplasie type E | |
| pt | Lisencefalia com hipoplasia cerebelosa tipo E | |
| pl | Lizencefalia z hipoplazją móżdżku typu E | |
| cs | Lisencefalie s pontocerebelární hypoplázií, typ E | |
| uk | Лісенцефалія з гіпоплазією мозочка, тип Е | |
| zh | 无脑回畸形伴小脑发育不全E型 | |
| tr | Serebellar hipoplazi tip E -ilişkili lizensefali |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0015038 | E | validated | |
| UMLS | C5191422 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:86823Lissencephaly with cerebellar hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100015
- This record as JSON: /data/d/100015.json