ORPHA:716116
Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome
Synonyms: CUL3-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- 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-hands and feet anomalies syndrome | CUL3-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-dysmorphie faciale-anomalies des mains et des pieds | Trouble du neurodéveloppement associé à CUL3 |
| de | Globale Entwicklungsverzögerung-Gesichtsdysmorphie-Hand- und Fußanomalien-Syndrom | Neurologische Entwicklungsstörung, CUL3-assoziierte |
| es | Síndrome de retraso global del desarrollo-dismorfia facial-anomalías en manos y pies | Trastorno del neurodesarrollo asociado a CUL3 |
| it | Sindrome ritardo globale dello sviluppo-dismorfismi facciali-anomalie delle mani e dei piedi | Malattia del neurosviluppo correlata a CUL3 |
| nl | Algehele ontwikkelingsachterstand - faciale dysmorfie - hand- en voetanomalieën-syndroom | CUL3-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome | |
| pl | Zespół globalnego opóźnienia rozwoju, dysmorfii twarzy oraz anomalii dłoni i stóp | = en |
| cs | Global developmental delay-facial dysmorphism-hands and feet anomalies 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 |
|---|---|---|---|---|---|---|---|---|
| CUL3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2553 | ENSG00000036257 | 603136 | 2q36.2 | cullin 3 | 39301775[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/716116
- This record as JSON: /data/d/716116.json