ORPHA:664410
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
Synonyms: MEF2C-related syndrome · Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | MEF2C-related syndrome · Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language |
| fr | Syndrome d'anomalies cérébrales-retard sévère du développement-dysmorphie faciale-déficience intellectuelle | Syndrome lié à MEF2C |
| de | Hirnanomalien-schwere Entwicklungsverzögerung-Gesichtsdysmorphien-Intelligenzminderung-Syndrom | MEF2C-assoziiertes Syndrom · NEDHSIL · Neurologische Entwicklungsstörung mit Hypotonie, stereotypen Handbewegungen und Sprachstörungen |
| es | Síndrome de anomalías cerebrales-retraso grave del desarrollo-dismorfia facial-discapacidad intelectual | Síndrome asociado al gen MEF2C · Trastorno del neurodesarrollo-hipotonía-movimientos estereotipados de las manos-afectación del lenguaje · Trastorno del neurodesarrollo-hipotonía-movimientos estereotipados de las manos-trastorno del lenguaje |
| it | Sindrome anomalie cerebrali-grave ritardo dello sviluppo-dismorfismi facciali-disabilità intellettiva | Malattia del neurosviluppo-ipotonia-movimenti stereotipati delle mani-deficit del linguaggio · Sindrome correlata a MEF2C |
| nl | Hersenafwijkingen - ernstige ontwikkelingsachterstand - faciale dysmorfie - intellectuele achterstand-syndroom | MEF2C-gerelateerd syndroom · Neurologische ontwikkelingsstoornis - hypotonie - stereotiepe handbewegingen - taalstoornis |
| pt | Síndrome de anomalias cerebrais-perturbação grave do desenvolvimento-dismorfia facial-perturbação do desenvolvimento intelectual | Doença do neurodesenvolvimento-hipotonia-movimentos estereotipados das mãos-perturbação da linguagem · Síndrome MEF2C-relacionada |
| pl | Zespół z wadami mózgu, ciężkim opóźnieniem rozwoju, dysmorfią twarzy i niepełnosprawnością intelektualną | = en |
| cs | Syndrom zahrnující abnormality mozku, těžké vývojové opoždění, faciální dysmorfii a intelektovou nedostatečnost | = en |
| uk | Синдром аномалій головного мозку-тяжкої затримки розвитку-дизморфізму обличчя- інтелектуальної недостатності | Синдром, повязаний з MEF2C · Порушення нейророзвитку - гіпотонія - стереотипні рухи рук - порушення мови |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613443 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 13266 | E | validated | |
| UMLS | C3150700 | 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 (3):
- 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 - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MEF2C | ORPHA:664416Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6996 | ENSG00000081189 | 600662 | 5q14.3 | myocyte enhancer factor 2C | 23389741[PMID] |
| MEF2C | ORPHA:2283845q14.3 microdeletion syndrome | Role in the phenotype of | Assessed | HGNC:6996 | ENSG00000081189 | 600662 | 5q14.3 | myocyte enhancer factor 2C | 20513142[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/664410
- This record as JSON: /data/d/664410.json