ORPHA:689829
Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- 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 | Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome | |
| fr | Syndrome de microphtalmie-retard moteur-retard de langage-anomalies cérébrales-hernie diaphragmatique | |
| de | Mikrophthalmie-motorische Entwicklungsverzögerung-Sprachverzögerung-Hirnanomalien-Zwerchfellhernie-Syndrom | |
| es | Síndrome de microftalmia-retraso motor-retraso del lenguaje-anomalías cerebrales-hernia diafragmática | |
| it | Sindrome microftalmia-ritardo motorio-ritardo del linguaggio-anomalie cerebrali-ernia diaframmatica | |
| nl | Microftalmie - motorische achterstand - taalachterstand - hersenanomalieën - hernia diaphragmatica-syndroom | |
| pt | Síndrome de microftalmia-atraso motor-atraso de linguagem-anomalias cerebrais-hérnia diafragmática | |
| pl | Zespół z małogłowiem opóźnieniem ruchowym i mowy, wadami mózgu i przepukliną przeponową | |
| cs | Syndrom zahrnující mikroftalmii, motorické opoždění, opoždění řeči, mozkové anomálie a brániční kýlu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615524 | E | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | not yet validated |
| MONDO | 14229 | 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: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:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RARB | Disease-causing germline mutation(s) in | Assessed | HGNC:9865 | ENSG00000077092 | 180220 | 3p24.2 | retinoic acid receptor beta | 37092537[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 37092537[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 37092537[PMID]_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/689829
- This record as JSON: /data/d/689829.json