SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
Synonyms: Kilquist syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by profound global developmental delay, impaired intellectual development, absent speech, sensorineural hearing loss, and hypotonia (present at birth). Patients have poor overall growth with severe feeding difficulties associated with gastrointestinal anomalies (including gastroesophageal reflux, midgut malrotation). Secretory dysfunction (including tear, sweat, and saliva production) causing dry mouth and recurrent bronchial mucus plugging are commonly observed. Differing from other form of the syndrome, these patients are often present with mild and non specific dysmorphic features (narrow forehead, oblong face, low-set ears, wide mouth, mandibular prognathia) and have multiple malformations (gastrointestinal, brain, choanal).
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | Kilquist syndrome |
| fr | Syndrome de retard de développement néonatal autosomique récessif-déficience intellectuelle-difficulté d'alimentation-surdité neurosensorielle associé à SLC12A2 | Syndrome de Kilquist |
| de | Autosomal-rezessives SLC12A2-assoziiertes Syndrom mit neonataler Entwicklungsverzögerung, Intelligenzminderung und sensorineuraler Schwerhörigkeit | Kilquist-Syndrom |
| es | Síndrome de sordera neurosensorial-retraso del desarrollo-discapacidad intelectual-dificultad para alimentarse autosómico recesivo asociado a SLC12A2 | |
| it | Sindrome autosomica recessiva neonatale-ritardo dello sviluppo - disabilità intellettiva-difficoltà di alimentazione-sordità neurosensoriale SLC12A2 correlata | |
| nl | SLC12A2-gerelateerd autosomaal recessief neonataal ontwikkelingsachterstand - intellectuele achterstand - voedingsproblemen- sensorineurale doofheid-syndroom | |
| pt | Síndrome neonatal de perturbação intelectual e do desenvolvimento-dificuldades alimentares-surdez neurossensorial autossómico recessivo SLC12A2-relacionada | |
| pl | Związany z SLC12A2 autosomalny recesywny zespół opóźnienia rozwoju, niepełnosprawności intelektualnej, problemów z karmieniem oraz niedosłuchu zmysłowo-nerwowego o początku w okresie noworodkowym | = en |
| cs | Syndrom související s SLC12A2 s autozomálně recesivní dědičností zahrnující novorozenecké opoždění vývoje, mentální retardaci, potíže s krmením a senzorineurální hluchotu | = en |
| uk | SLC12A2-повязаний аутосомно-рецесивний синдром затримки неонатального розвитку-інтелектуальної недостатності-труднощів з вигодовуванням-сенсоневральної глухоти | Синдром Кілквіста |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619080 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0859761 | E | validated | |
| UMLS | C5436756 | 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 | 34797034[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/633021
- This record as JSON: /data/d/633021.json