ORPHA:100014
Lissencephaly with cerebellar hypoplasia type D
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly with cerebellar hypoplasia type D | |
| fr | Lissencéphalie-hypoplasie cérébelleuse type D | |
| de | Lissenzephalie mit zerebellärer Hypoplasie Typ D | |
| es | Lisencefalia con hipoplasia cerebelosa tipo D | |
| it | Lissencefalia con ipoplasia cerebellare tipo D | |
| nl | Lissencefalie met cerebellaire hypoplasie type D | |
| pt | Lisencefalia com hipoplasia cerebelosa tipo D | |
| pl | Lizencefalia z hipoplazją móżdżku typu D | |
| cs | Lisencefalie s pontocerebelární hypoplázií, typ D | |
| uk | Лісенцефалія з гіпоплазією мозочка, тип D | |
| zh | 无脑回畸形伴小脑发育不全D型 | |
| tr | Serebellar hipoplazi tip D -ilişkili lizensefali |
Definition in:
2
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 | 0015037 | E | validated | |
| UMLS | C4274991 | 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.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/100014
- This record as JSON: /data/d/100014.json