ORPHA:100012
Lissencephaly with cerebellar hypoplasia type B
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly with cerebellar hypoplasia type B | |
| fr | Lissencéphalie-hypoplasie cérébelleuse type B | |
| de | Lissenzephalie mit zerebellärer Hypoplasie Typ B | |
| es | Lisencefalia con hipoplasia cerebelosa tipo B | |
| it | Lissencefalia con ipoplasia cerebellare tipo B | |
| nl | Lissencefalie met cerebellaire hypoplasie type B | |
| pt | Lisencefalia com hipoplasia cerebelosa tipo B | |
| pl | Lizencefalia z hipoplazją móżdżku typu B | |
| cs | Lisencefalie s pontocerebelární hypoplázií, typ B | |
| uk | Лісенцефалія з гіпоплазією мозочка, тип В | |
| zh | 无脑回畸形伴小脑发育不全B型 | |
| tr | Serebellar hipoplazi tip B -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 | 0015035 | E | validated | |
| UMLS | C4274993 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 11748497[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11748497[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/100012
- This record as JSON: /data/d/100012.json