Isolated corpus callosum agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated corpus callosum agenesis | |
| fr | Agénésie isolée du corps calleux | |
| de | Corpus callosum-Agenesie, isolierte Form | |
| es | Agenesia aislada del cuerpo calloso | |
| it | Agenesia isolata del corpo calloso | |
| nl | Geïsoleerde agenesie van corpus callosum | |
| pt | Agenesia do corpo caloso isolada | |
| pl | Izolowana agnezja działa modzelowatego | |
| cs | Izolované ageneze corpus callosum | |
| uk | Ізольована агенезія мозолистого тіла | |
| zh | 孤立型胼胝体发育不全 | |
| tr | İzole korpus kallozum agenezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.0 | NTBT | attributed | validated |
| ICD-11 | LA05.3 | E | specific | validated |
| MONDO | 0026419 | E | validated | |
| MONDO | 26419 | E | validated | |
| MONDO | 9022 | E | validated | |
| MeSH | D061085 | E | validated | |
| UMLS | C0175754 | 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:199633Non-syndromic cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Hungary | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | United States | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.37 / 100 000 | United States | Value and class | Validated | 18642362[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Hungary | Value and class | Validated | ORPHANET_21555052[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.
HPO phenotypes
13 annotations · validated 2023-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| Occasional (29-5%) | ||
| HP:0031843 | Bradyphrenia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010522 | Dyslexia | |
| HP:6000915 | Dysorthography | |
| HP:0002015 | Dysphagia | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002463 | Language impairment | |
| HP:0002370 | Poor coordination | |
| HP:0000736 | Short attention span | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 35274783[PMID]_22284958[PMID]_33517337[PMID]_31082030[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/200
- This record as JSON: /data/d/200.json