ORPHA:1497
X-linked complicated corpus callosum dysgenesis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked complicated corpus callosum dysgenesis | |
| fr | Agénésie complexe du corps calleux liée à l'X | |
| de | Corpus callosum-Dysgenesie, komplizierte, X-chromosomale | |
| es | Disgenesia del cuerpo calloso compleja ligada al cromosoma X | |
| it | Agenesia complessa del corpo calloso legata all'X | |
| nl | X-gebonden gecompliceerde dysgenesie van corpus callosum | |
| pt | Disgenesia do corpo caloso complexa ligada ao X | |
| pl | Złożona dysgenezja ciała modzelowatego sprzężona z chromosomem X | |
| cs | X-vázaná komplikovaná dysgeneze corpus callosum | |
| uk | Х-зчеплена ускладнена дисгенезія мозолистого тіла | |
| zh | X连锁复杂性胼胝体发育不良 | |
| tr | X'e bağlı komplike korpus kallozum disgenezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304100 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LD20.Y | NTBT | index | validated |
| MONDO | 0010569 | E | validated | |
| UMLS | C1839909 | 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:275543L1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| L1CAM | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000252 | Microcephaly | |
| HP:0001324 | Muscle weakness | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002251 | Aganglionic megacolon | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1497
- This record as JSON: /data/d/1497.json