ORPHA:369891
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Synonyms: MED13L-related intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | MED13L-related intellectual disability syndrome |
| fr | Syndrome de retard de développement-dysmorphie faciale par déficit en MED13L | Syndrome de déficience intellectuelle associé à MED13L |
| de | Entwicklungsverzögerung-Gesichtsdysmorphien-Syndrom durch MED13L-Mangel | Intelligenzminderung-Syndrom, MED13L-assoziiertes |
| es | Síndrome de retraso del desarrollo-dismorfia facial, por defecto en el gen MED13L | Síndrome de discapacidad intelectual asociado al gen MED13L |
| it | Sindrome ritardo dello sviluppo-dismorfismi facciali da deficit di MED13L | Sindrome da disabilità intellettiva correlata a MED13L |
| nl | Ontwikkelingsachterstand - faciale dysmorfie-syndroom door MED13L-deficiëntie | MED13L-gerelateerd intellectuele achterstand-syndroom |
| pt | Síndrome de perturbação do desenvolvimento-dismorfia facial devido a deficiência MED13L | Síndrome de perturbação de desenvolvimento MED13L-relacionada |
| pl | Zespół opóźnionego rozwoju i dysmorfii twarzy spowodowany niedoborem MED13L | = en |
| cs | Syndrom zahrnující srdeční anomálie, opoždění vývoje a faciální dysmorfismus | = en |
| uk | Синдром затримки розвитку - дисморфізму обличчя, зумовлений дефіцитом MED13L | Синдром інтелектуальної недостатності, повязаний з MED13L |
| zh | MED13L基因缺陷所致发育迟缓-面部畸形综合征 | = en |
| tr | MED13L eksikliğine bağlı gelişme geriliği-fasiyal dismorfizm sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616789 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0014773 | E | validated | |
| MONDO | 14773 | E | validated | |
| UMLS | C5192431 | 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 (4):
- ORPHA:271853Genetic cardiac anomaly
rare genetic diseases - 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MED13L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:22962 | ENSG00000123066 | 608771 | 12q24.21 | mediator complex subunit 13L | 23403903[PMID]_25712080[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 28645799[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28645799[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
66 annotations · validated 2019-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000414 | Bulbous nose | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000369 | Low-set ears | |
| HP:0000158 | Macroglossia | |
| HP:0000194 | Open mouth | |
| HP:0002465 | Poor speech | |
| HP:0001328 | Specific learning disability | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000718 | Aggressive behavior | |
| HP:0000713 | Agitation | |
| HP:0005612 | Arthrogryposis-like hand anomaly | |
| HP:0001251 | Ataxia | |
| HP:0000717 | Autism | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0012385 | Camptodactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0002236 | Frontal upsweep of hair | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0002311 | Incoordination | |
| HP:0000294 | Low anterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0007700 | Ocular anterior segment dysgenesis | |
| HP:0100025 | Overfriendliness | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001357 | Plagiocephaly | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000508 | Ptosis | |
| HP:0000711 | Restlessness | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001159 | Syndactyly | |
| HP:0000325 | Triangular face | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25758992[PMID]_29959045[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369891
- This record as JSON: /data/d/369891.json