ORPHA:717823
Global developmental delay-recurrent infections-facial dysmorphism syndrome
Synonyms: ANKRD17-related neurodevelopmental disorder · Chopra-Amiel-Gordon syndrome
- 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-recurrent infections-facial dysmorphism syndrome | ANKRD17-related neurodevelopmental disorder · Chopra-Amiel-Gordon syndrome |
| fr | Syndrome de retard global du développement-infections récurrentes-dysmorphie faciale | Syndrome Chopra-Amiel-Gordon · Trouble du neurodéveloppement associé à ANKRD17 |
| de | Globales Entwicklungsverzögerungs-rezidivierende Infektionen-Gesichtsdysmorphie-Syndrom | Chopra-Amiel-Gordon-Syndrom · ANKRD17-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-infecciones recurrentes-dismorfia facial | Trastorno del neurodesarrollo asociado a ANKRD17 · Síndrome de Chopra-Amiel-Gordon |
| it | Sindrome ritardo dello sviluppo globale-infezioni ricorrenti-dismorfismi facciali | Sindrome di Chopra-Amiel-Gordon · Malattia del neurosviluppo correlata a ANKRD17 |
| nl | Algehele ontwikkelingsachterstand - recidiverende infecties - faciale dysmorfie-syndroom | Syndroom van Chopra-Amiel-Gordon · ANKRD17-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-recurrent infections-facial dysmorphism syndrome | |
| pl | Global developmental delay-recurrent infections-facial dysmorphism syndrome | = en |
| cs | Global developmental delay-recurrent infections-facial dysmorphism syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619504 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANKRD17 | Disease-causing germline mutation(s) in | Assessed | HGNC:23575 | ENSG00000132466 | 615929 | 4q13.3 | ankyrin repeat domain 17 | 33909992[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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/717823
- This record as JSON: /data/d/717823.json