ORPHA:716109
Global developmental delay-facial dysmorphism-brachydactyly syndrome
Synonyms: DDB1-related neurodevelopmental disorder · White-Kernohan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, 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 | Global developmental delay-facial dysmorphism-brachydactyly syndrome | DDB1-related neurodevelopmental disorder · White-Kernohan syndrome |
| fr | Syndrome de retard global de développement-dysmorphie faciale-brachydactylie | Syndrome de White-Kernohan · Trouble du neurodéveloppement associé à DDB1 |
| de | Globale Entwicklungsverzögerung-Gesichtsdysmorphie-Brachydaktylie-Syndrom | Neurologische Entwicklungsstörung, DDB1-assoziierte · White-Kernohan-Syndrom |
| es | Síndrome de retraso global del desarrollo-dismorfia facial-braquidactilia | Síndrome de White-Kernohan · Trastorno del neurodesarrollo asociado a DDB1 |
| it | Sindrome ritardo dello sviluppo globale-dismorfismi facciali-brachidattilia | Malattia del neurosviluppo correlata a DDB1 · Sindrome di White-Kernohan |
| nl | Algehele ontwikkelingsachterstand - faciale dysmorfie - brachydactylie-syndroom | DDB1-gerelateerde neurologische ontwikkelingsstoornis · Syndroom van White-Kernohan |
| pt | Global developmental delay-facial dysmorphism-brachydactyly syndrome | |
| pl | Zespół globalnego opóźnienia rozwoju, dysmorfii twarzy i brachydaktylii | = en |
| cs | Global developmental delay-facial dysmorphism-brachydactyly syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relationE 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 |
|---|---|---|---|---|---|---|---|---|
| DDB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2717 | ENSG00000167986 | 600045 | 11q12.2 | damage specific DNA binding protein 1 | 33743206[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 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/716109
- This record as JSON: /data/d/716109.json