SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Synonyms: Delpire-McNeill syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | Delpire-McNeill syndrome |
| fr | Syndrome de retard de développement autosomique dominant-infantile-déficience intellectuelle-surdité neurosensorielle associé à SLC12A2 | Syndrome de Delpire-McNeill |
| de | Autosomal-dominantes SLC12A2-assoziiertes Syndrom mit infantiler Entwicklungsverzögerung, Intelligenzminderung und sensorineuraler Schwerhörigkeit | Delpire-McNeill-Syndrom |
| es | Síndrome de retraso del desarrollo infantil-discapacidad intelectual-sordera neurosensorial autosómico dominante asociado a SLC12A2 | |
| it | Sindrome autosomica dominante infantile da ritardo dello sviluppo-disabilità intellettiva-sordità neurosensoriale correlata a SLC12A2 | |
| nl | SLC12A2-gerelateerd autosomaal dominant infantiel ontwikkelingsachterstand - intellectuele achterstand - sensorineurale doofheid-syndroom | |
| pt | Síndrome de perturbação intelectual e do desenvolvimento da infância-surdez neurossensorial autossómica dominante SLC12A2-relacionada | |
| pl | Związany z SLC12A2 autosomalny dominujący zespół opóźnienia rozwoju, niepełnosprawności intelektualnej oraz niedosłuchu zmysłowo-nerwowego o początku w okresie niemowlęcym | = en |
| cs | Syndrom související s SLC12A2 s autozomálně dominantní dědičností zahrnující opoždění vývoje v dětství, mentální retardaci a senzorineurální hluchotu | = en |
| uk | SLC12A2-повязаний аутосомно-домінантний синдром затримки дитячого розвитку-інтелектуальної недостатності-сенсоневральної глухоти | Синдром Дельпіра-МакНіла |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619083 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0859762 | E | validated | |
| UMLS | C5436771 | 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):
Parents in the classifications (1):
- ORPHA:633014SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC12A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10911 | ENSG00000064651 | 600840 | 5q23.3 | solute carrier family 12 member 2 | 32658972[PMID] |
Prevalence and incidence
0 recordsNo 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/633024
- This record as JSON: /data/d/633024.json