ORPHA:658843
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Synonyms: HADDS · Hypotonia-ataxia-delayed developmental syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome | HADDS · Hypotonia-ataxia-delayed developmental syndrome |
| fr | Syndrome de retard de développement-ataxie-hypotonie-dysmorphie faciale | HADDS · Syndrome d'hypotonie-ataxie-retard de développement |
| de | Entwicklungsverzögerung-Ataxie-Hypotonie-Gesichtsdysmorphie-Syndrom | HADDS · Hypotonie-Ataxie-Entwicklungsverzögerung-Syndrom |
| es | Síndrome de retraso del desarrollo-ataxia-hipotonía-dismorfia facial | HADDS · Síndrome de hipotonía-ataxia-retraso del desarrollo |
| it | Sindrome ritardo dello sviluppo-atassia-ipotonia-dismorfismi facciali | HADDS · Sindrome ipotonia-atassia-ritardo nello sviluppo |
| nl | Ontwikkelingsachterstand - ataxie - hypotonie - faciale dysmorfie-syndroom | HADDS · Hypotonie - ataxie - ontwikkelingsachterstand-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-ataxia-hipotonia-dismorfia facial | |
| pl | Zespół opóźnienia rozwojowego, ataksji, hipotonii i dysmorfii twarzy | = en |
| cs | Syndrom zahrnující vývojové opoždění, ataxii, hypotonii a faciální dysmorfii | = en |
| uk | Синдром затримки розвитку-атаксії-гіпотонії-дисморфізму обличчя |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617330 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 15021 | E | validated | |
| UMLS | C5925144 | 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 |
|---|---|---|---|---|---|---|---|---|
| EBF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:19087 | ENSG00000108001 | 607407 | 10q26.3 | EBF transcription factor 3 | 28017373[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 62 cases | Worldwide | Case(s) | Validated | 28017373[PMID]_28017372[PMID]_28017370[PMID]_35340043[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28017373[PMID]_28017372[PMID]_28017370[PMID]_35340043[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.
6
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/658843
- This record as JSON: /data/d/658843.json