ORPHA:694304
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome | |
| fr | Syndrome de retard du développement-retard de langage-épilepsie-troubles du comportement-dysmorphie craniofaciale associé à ZMYND11 | |
| de | ZMYND11-assoziierte syndromale Entwicklungsverzögerung mit Sprachverzögerung, Krampfanfällen, Verhaltensauffälligkeiten und kraniofazialen Dysmorphien | |
| es | Síndrome de retraso del desarrollo-retraso del habla-epilepsia-trastornos de la conducta-dismorfia craneofacial asociado a ZMYND11 | |
| it | Sindrome ritardo dello sviluppo-ritardo del linguaggio-crisi epilettiche-anomalie comportamentali-dismorfismi craniofacciali correlata a ZMYND11 | |
| nl | ZMYND11-gerelateerd ontwikkelingsachterstand - spraakachterstand - insulten - gedragsafwijkingen - craniofaciale dysmorfie-syndroom | |
| pt | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome | |
| pl | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome | |
| cs | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616083 | 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 (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
Children (2):
- ORPHA:687424ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
- ORPHA:694308ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
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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 |
|---|---|---|---|---|---|---|---|---|---|
| ZMYND11 | ORPHA:694308ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:16966 | ENSG00000015171 | 608668 | 10p15.3 | zinc finger MYND-type containing 11 | 38397245[PMID] |
| ZMYND11 | ORPHA:687424ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion | Role in the phenotype of | Assessed | HGNC:16966 | ENSG00000015171 | 608668 | 10p15.3 | zinc finger MYND-type containing 11 | 25281490[PMID]_22847950[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
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/694304
- This record as JSON: /data/d/694304.json