ORPHA:717795
Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome
Synonyms: ELP2-related neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- 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-spastic diplegia-choreoathetosis-intellectual disability syndrome | ELP2-related neurodevelopmental disorder |
| fr | Syndrome du retard de développement-diplégie spastique-choréoathétose-déficience intellectuelle | Trouble du neurodéveloppement associé à ELP2 |
| de | Entwicklungsverzögerung-spastische Diplegie-Choreoathetose-Intelligenzminderung-Syndrom | ELP2-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso del desarrollo-diplejía espástica-coreoatetosis-discapacidad intelectual | Trastorno del neurodesarrollo asociado a ELP2 |
| it | Sindrome ritardo dello sviluppo-diplegia spastica-coreoatetosi-disabilità intellettiva | Malattia del neurosviluppo correlata a ELP2 |
| nl | Ontwikkelingsachterstand - spastische diplegie - choreoathetose - intellectuele achterstand-syndroom | ELP2-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome | |
| pl | Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome | = en |
| cs | Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617270 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18248 | ENSG00000134759 | 616054 | 18q12.2 | elongator acetyltransferase complex subunit 2 | 25847581[PMID]_34653680[PMID]_33976153[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/717795
- This record as JSON: /data/d/717795.json