ORPHA:726695
Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome
Synonyms: HECW2-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, 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-vision anomalies-hand stereotypies-intellectual disability syndrome | HECW2-related neurodevelopmental disorder |
| fr | Syndrome de retard du développement-anomalies visuels- stéréotypies des mains-déficience intellectuelle | Trouble du neurodéveloppement associé à HECW2 |
| de | Entwicklungsverzögerung-Sehstörungen-stereotype Handbewegungen-Intelligenzminderung-Syndrom | HECW2-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso del desarrollo-anomalías visuales-movimientos estereotipados de las manos-discapacidad intelectual | Trastorno del neurodesarrollo asociado al gen HECW2 |
| it | Sindrome ritardo dello sviluppo-anomalie della vista-stereotipie delle mani-disabilità intellettiva | Malattia del neurosviluppo correlata a HECW2 |
| nl | Ontwikkelingsachterstand - afwijkingen van zicht - stereotiepe handbewegingen - intellectuele achterstand-syndroom | HECW2-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome | |
| pl | Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome | = en |
| cs | Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617268 | 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 (2):
- 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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HECW2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29853 | ENSG00000138411 | 617245 | 2q32.3 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 34321324[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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/726695
- This record as JSON: /data/d/726695.json