Isolated lissencephaly type 1 without known genetic defects
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated lissencephaly type 1 without known genetic defects | |
| fr | Lissencéphalie type 1 inexpliquée | |
| de | Lissenzephalie Typ 1, isolierte, ohne bekannten genetischen Defekt | |
| es | Lisencefalia aislada tipo 1 sin anomalías genéticas conocidas | |
| it | Lissencefalia isolata tipo 1, senza difetti genetici noti | |
| nl | Geïsoleerde lissencefalie type 1 zonder gekende genetische defecten | |
| pt | Lisencefalia tipo 1 isolada, sem alterações genéticas conhecidas | |
| pl | Izolowana lizencefalia typu 1 bez znanych wad genetycznych | |
| cs | Izolovaná lisencefalie 1. typu bez známých genetických defektů | |
| uk | Ізольована лісенцефалія типу 1 без відомих генетичних дефектів | |
| zh | 无已知基因缺陷孤立型无脑回畸形1型 | |
| tr | Bilinen genetik defektleri olmayan izole lizensefali tip 1 |
Definition in:
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 | 0015205 | E | validated | |
| UMLS | C4275151 | 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:102009Classic lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; 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
17 annotations · validated 2020-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031882 | Agyria | |
| HP:0008936 | Axial hypotonia | |
| HP:0011201 | EEG with changes in voltage | |
| HP:0100952 | Enlarged sylvian cistern | |
| HP:0011968 | Feeding difficulties | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0012469 | Infantile spasms | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0020219 | Motor seizure | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001302 | Pachygyria | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 19302951[PMID]_18809027[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1084
- This record as JSON: /data/d/1084.json