ORPHA:714404
Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome | |
| fr | Syndrome de retard de développement-macrocéphalie-dysgénésie du corps calleux-déficience intellectuelle | |
| de | Entwicklungsverzögerung-Makrozephalie-Corpus Callosum-Dysgenesie-Intelligenzminderung-Syndrom | |
| es | Síndrome de retraso del desarrollo-macrocefalia-disgenesia del cuerpo calloso-discapacidad intelectual | |
| it | Sindrome ritardo dello sviluppo-macrocefalia-disgenesia del corpo calloso-disabilità intellettiva | |
| nl | Ontwikkelingsachterstand - macrocefalie - dysgenesie van corpus callosum - intellectuele achterstand-syndroom | |
| pt | Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome | |
| pl | Zespół opóźnienia rozwoju, makrocefalii, dysgenezji spoidła wielkiego i niepełnosprawności intelektualnej | |
| cs | Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618286 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| NFIB | ORPHA:714407Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:7785 | ENSG00000147862 | 600728 | 9p23-p22.3 | nuclear factor I B | 30388402[PMID]_36756855[PMID] |
| NFIB | ORPHA:7144139p23p22.2 microdeletion syndrome | Role in the phenotype of | Assessed | HGNC:7785 | ENSG00000147862 | 600728 | 9p23-p22.3 | nuclear factor I B | 36756855[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 30388402[PMID]_36756855[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30388402[PMID]_36756855[PMID]_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
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/714404
- This record as JSON: /data/d/714404.json