SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfuntion. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome | |
| fr | Syndrome de déficience intellectuelle-surdité neurosensorielle associé à SLC12A2 | |
| de | SLC12A2-assoziierte Entwicklungsverzögerung mit Intelligenzminderung und sensorineuraler Schwerhörigkeit | |
| es | Síndrome de retraso del desarrollo-discapacidad intelectual-sordera neurosensorial asociado a SLC12A2 | |
| it | Sindrome da ritardo dello sviluppo-disabilità intellettiva-sordità neurosensoriale correlata a SLC12A2 | |
| nl | SLC12A2-gerelateerd ontwikkelingsachterstand - intellectuele achterstand - sensorineurale doofheid-syndroom | |
| pt | Síndrome de perturbação intelectual e do desenvolvimento-surdez neurossensorial SLC12A2-relacionada | |
| pl | Związany z SLC12A2 zespół opoźnienia rozwoju, niepełnosprawności intelektualnej i niedosłuchu zmysłowo-nerwowego | |
| cs | Syndrom související s SLC12A2 zahrnující senzorineurální hluchotu, opoždění vývoje a mentální retardaci | |
| uk | SLC12A2-повязаний синдром затримки розвитку-інтелектуальної недостатності-сенсоневральної глухоти |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619080 | BTNT | validated | |
| OMIM | 619083 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0859000 | E | validated | |
| UMLS | C5816806 | 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 (2):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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 |
|---|---|---|---|---|---|---|---|---|---|
| SLC12A2 | ORPHA:633021SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:10911 | ENSG00000064651 | 600840 | 5q23.3 | solute carrier family 12 member 2 | 34797034[PMID] |
| SLC12A2 | ORPHA:633024SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:10911 | ENSG00000064651 | 600840 | 5q23.3 | solute carrier family 12 member 2 | 32658972[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 34797034[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34797034[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633014
- This record as JSON: /data/d/633014.json