ORPHA:730327
Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome
Synonyms: NARS1-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- 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-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome | NARS1-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-microcéphalie-ataxie-neuropathie périphérique démyélinisante-déficience intellectuelle | Trouble du neurodéveloppement associé à NARS1 |
| de | Globale Entwicklungsverzögerung-Mikrozephalie-Ataxie-periphere demyelinisierende Neuropathie-Intelligenzminderung-Syndrom | NARS1-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-microcefalia-ataxia-neuropatía desmielinizante periférica-discapacidad intelectual | Trastorno del neurodesarrollo asociado a NARS1 |
| it | Sindrome ritardo dello sviluppo globale-microcefalia-atassia-neuropatia periferica demielinizzante -disabilità intellettiva | Malattia del neurosviluppo correlata a NARS1 |
| nl | Algehele ontwikkelingsachterstand - microcefalie - ataxie - perifere demyeliniserende neuropathie - intellectuele achterstand-syndroom | NARS1-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-microcephaly-ataxia-perpipheral dimyelinating neuropathy-intellectual disability syndrome | |
| pl | Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome | = en |
| cs | Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7643 | 18q21.31 | asparaginyl-tRNA synthetase 1 | 32738225[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/730327
- This record as JSON: /data/d/730327.json