ORPHA:660012

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

Synonyms: NR4A2-related neurodevelopmental syndrome

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation	NR4A2-related neurodevelopmental syndrome
fr	Syndrome de retard développemental-troubles du language-dystonie dopa sensible-parkinsonisme dû à une mutation ponctuelle de NR4A2	Syndrome neurodeveloppemental associé à NR4A2
de	Neurologische Entwicklungsverzögerung-Sprachbehinderung-Dopa-reaktive Dystonie-Parkinsonismus-Syndrom	Neurologische Entwicklungsstörung, NR4A2-assoziierte
es	Síndrome de retraso del desarrollo-trastorno del lenguaje-distonía dopa-sensible-parkinsonismo por una mutación puntual en el gen NR4A2
it	Sindrome ritardo dello sviluppo-deficit del linguaggio-distonia sensibile al dopa-parkinsonismo da mutazione puntiforme di NR4A2	Sindrome del neurosviluppo correlata a NR4A2
nl	Neurologische ontwikkelingsachterstand - taalstoornis - doparesponsieve dystonie - parkinsonisme-syndroom door een NR4A2-puntmutatie	NR4A2-gerelateerd neurologische ontwikkelingssyndroom
pt	Síndrome de perturbação do desenvolvimento intelectual-perturbação da linguagem-distonia-parkinsonismo sensível a dopamina por mutação pontual em NR4A2	Síndrome do neurodesenvolvimento NR4A2-relacionada
pl	Zespół z opóźnieniem rozwojowym, zaburzeniami mowy, dystonią-parkinsonizmem wrażliwym na dopę, spowodowany mutacją punktową w genie NR4A2	= en
cs	Syndrom spojený s bodovou mutací NR4A2 zahrnující vývojové opoždění, poruchu řeči, dopa responzivní dystonii a parkinsonizmus	= en
uk	Синдром затримки розвитку-порушення мови-дофа-чутливої дистонії-паркінсонізму, зумовлений точковою мутацією NR4A2	NR4A2-асоційований синдром нейророзвитку

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	619911	E	validated
MONDO	0971062	E	validated
UMLS	C5925124	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:660017Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NR4A2	Disease-causing germline mutation(s) in	Assessed	HGNC:7981	ENSG00000153234	601828	2q24.1	nuclear receptor subfamily 4 group A member 2	32366965[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/660012
This record as JSON: /data/d/660012.json