ORPHA:664416

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

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	Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
fr	Syndrome d'anomalies cérébrales-retard du développement sévère-dysmorphie faciale-déficience intellectuelle dû à une mutation de MEF2C
de	Hirnanomalien-schwere Entwicklungsverzögerung-Gesichtsdysmorphien-Intelligenzminderung-Syndrom durch MEF2C-Genmutation
es	Síndrome de anomalías cerebrales-retraso grave del desarrollo-dismorfia facial-discapacidad intelectual por mutación en el gen MEF2C
it	Sindrome anomalie cerebrali-grave ritardo dello sviluppo-dismorfismi facciali-disabilità intellettiva da mutazione di MEF2C
nl	Hersenafwijkingen - ernstige ontwikkelingsachterstand - faciale dysmorfie - intellectuele achterstand-syndroom door MEF2C-mutatie
pt	Síndrome de anomalias cerebrais-perturbação grave do desenvolvimento-dismorfia facial-perturbação do desenvolvimento intelectual devido a mutação em MEF2C
pl	Zespół z wadami mózgu, ciężkim opóźnieniem rozwoju, dysmorfią twarzy i niepełnosprawnością intelektualną spowodowany mutacją w genie MEF2C
cs	Syndrom způsobený mutací MEF2C zahrnující abnormality mozku, těžké vývojové opoždění, faciální dysmorfii a intelektovou nedostatečnost
uk	Синдром аномалій головного мозку-тяжкої затримки розвитку дизморфізму обличчя- інтелектуальної недостатності, зумовлений мутацією MEF2C

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	613443	NTBT	validated
MONDO	0975751	E	validated
UMLS	C5925059	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:664410Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MEF2C	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6996	ENSG00000081189	600662	5q14.3	myocyte enhancer factor 2C	23389741[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/664416
This record as JSON: /data/d/664416.json