ORPHA:717841
Global developmental delay-facial dysmorphism-atrial septal defect syndrome
Synonyms: Neurodevelopmental disorder due to KDM2B-CxxC domain mutation
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-facial dysmorphism-atrial septal defect syndrome | Neurodevelopmental disorder due to KDM2B-CxxC domain mutation |
| fr | Syndrome de retard global de développement-dysmorphie faciale-communication interauriculaire | Trouble du neurodéveloppement dû à une mutation dans le domaine CxxC du gène KDM2B |
| de | Globale Entwicklungsverzögerung-Gesichtsdysmorphie-Atriumseptumdefekt-Syndrom | Neurologische Entwicklungsstörung durch Mutation in der CxxC-Domäne des KDM2B-Gens · KDM2B-assoziierte neurologische Entwicklungsstörung · NEDCRO · Neurologische Entwicklungsstörung mit angeborenen Herzfehlern und variablen Nieren- und Augenanomalien |
| es | Síndrome de retraso global del desarrollo-dismorfia facial-comunicación interauricular | Trastorno del neurodesarrollo por mutación del dominio CxxC de KDM2B |
| it | Sindrome ritardo dello sviluppo globale-dismorfismi facciali-difetto del setto interatriale | Malattia del neurosviluppo da mutazione del dominio KDM2B-CxxC |
| nl | Algehele ontwikkelingsachterstand - faciale dysmorfie - atriumseptumdefect-syndroom | Neurologische ontwikkelingsstoornis door mutatie in CxxC-domein van KDM2B |
| pt | Global developmental delay-facial dysmorphism-atrial septal defect syndrome | |
| pl | Global developmental delay-facial dysmorphism-atrial septal defect syndrome | = en |
| cs | Global developmental delay-facial dysmorphism-atrial septal defect syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621474 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KDM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:13610 | ENSG00000089094 | 609078 | 12q24.31 | lysine demethylase 2B | 40420380[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/717841
- This record as JSON: /data/d/717841.json