ORPHA:664430
Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
Synonyms: SLC4A10-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | SLC4A10-related neurodevelopmental disorder |
| fr | Syndrome de trouble neurologique du développement-collapsus des ventricules latéraux-déficience intellectuelle | Trouble neurologique du développement lié à SLC4A10 |
| de | Neurologische Entwicklungsstörung-schlitzförmige laterale Hirnventrikel-Intelligenzminderung-Syndrom | SLC4A10-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de trastorno del neurodesarrollo-ventrículos laterales en hendidura-discapacidad intelectual | Trastorno del neurodesarrollo asociado al gen SLC4A10 |
| it | Malattia del neurosviluppo-fissurazione dei ventricoli laterali-disabilità intellettiva | Malattia del neurosviluppo correlata a SLC4A10 |
| nl | Neurologische ontwikkelingsstoornis - spleetvormige laterale ventrikels - intellectuele achterstand-syndroom | SLC4A10-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de doença do neurodesenvolvimento-ventrículos laterais em forma de fenda-perturbação do desenvolvimento intelectual | Doença do neurodesenvolvimento SLC4A10-relacionada |
| pl | Zespół zaburzeń neurorozwojowych, szczelinowatych komór bocznych i niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující neurovývojovou poruchu, štěrbinovité postranní komory a intelektovou nedostatečnost | = en |
| uk | Синдром порушення нейророзвитку-щілиноподібних бічних шлуночків-інтелектуальної недостатності | Повязане з SLC4A10 порушення нейророзвитку |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620746 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0958278 | E | validated | |
| MONDO | 958278 | E | validated | |
| UMLS | C5925058 | 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC4A10 | Disease-causing germline mutation(s) in | Assessed | HGNC:13811 | ENSG00000144290 | 605556 | 2q24.2 | solute carrier family 4 member 10 | 37459438[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/664430
- This record as JSON: /data/d/664430.json