Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Synonyms: Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome · Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic neurological syndrome characterized by cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome | Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome · Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome |
| fr | Syndrome de retard neurodéveloppemental-hypotonie-ataxie cérébelleuse-troubles de la conduction cardiaque | Ataxie cérébelleuse-anomalies cérébrales-troubles de la conduction cardiaque · Syndrome de retard neurodéveloppemental-hypotonie-atrophie cérébelleuse-troubles de la conduction cardiaque |
| de | Neurologische Entwicklungsverzögerung-Hypotonie-zerebelläre Ataxie-Herzleitungsstörungen-Syndrom | Syndrom der neurologischen Entwicklungsverzögerung, Hypotonie, zerebellären Atrophie und kardialen Überleitungsstörungen · Zerebelläre Ataxie-Hirnanomalien-Herzleitungsstörungen-Syndrom |
| es | Síndrome de retraso del neurodesarrollo-hipotonía-ataxia cerebelosa-defectos de la conducción cardiaca | Síndrome de ataxia cerebelosa-anomalías cerebrales-defectos de la conducción cardiaca · Síndrome de retraso del neurodesarrollo-hipotonía-atrofia cerebelosa-defectos de la conducción cardiaca |
| it | Sindrome ritardo dello sviluppo neurologico-ipotonia-atassia cerebellare-difetti della conduzione cardiaca | Sindrome atassia cerebellare-anomalie cerebrali-difetti della conduzione cardiaca · Sindrome ritardo dello sviluppo neurologico-ipotonia-atrofia cerebellare-difetti della conduzione cardiaca |
| nl | Neurologische ontwikkelingsachterstand - hypotonie - cerebellaire ataxie - hartgeleidingsdefecten-syndroom | Neurologische ontwikkelingsachterstand - hypotonie - cerebellaire atrofie - hartgeleidingsdefecten-syndroom · Cerebellaire ataxie - hersenafwijkingen - hartgeleidingsdefecten-syndroom |
| pt | Síndrome de atraso do neurodesenvolvimento-hipotonia-ataxia cerebelosa-defeitos da condução elétrica cardíaca | Síndrome de ataxia cerebelosa-anomalias cerebrais-anomalias da condução elétrica cardíaca · Síndrome de perturbação do neurodesenvolvimento-hipotonia-atrofia cerebelosa-anomalias da condução elétrica cardíaca |
| pl | Zespół opóźnienia neurorozwojowego - hipotonii - ataksji móżdżkowej - zaburzeń przewodnictwa sercowego | = en |
| cs | Syndrom zahrnující neurovývojové opoždění, hypotonii, cerebelární ataxii a poruchy srdečního vedení | = en |
| uk | Синдром затримки нервового розвитку-гіпотонії-мозочкової атаксії-вади серцевої провідності | Синдром мозочкової атаксії - аномалії розвитку головного мозку - вад серцевої провідності · Синдром затримки нервового розвитку - гіпотонії - атрофії мозочка - вад серцевої провідності |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619576 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0859200 | E | validated | |
| UMLS | C5816792 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EXOSC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:24662 | ENSG00000077348 | 606492 | 19q13.2 | exosome component 5 | 30950035[PMID]_32504085[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 34089229[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34089229[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/641361
- This record as JSON: /data/d/641361.json