ORPHA:662829
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Synonyms: BCL11B-related neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic syndromic neurodevelopmental disorder characterized by intellectual disability, speech and motor delay, and distinctive craniofacial features. Immune involvement is common, though only some individuals develop immunodeficiency or autoimmunity. Additional features may include craniosynostosis, seizures, brain MRI abnormalities, and refractive errors.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome | BCL11B-related neurodevelopmental disorder |
| fr | Syndrome de déficience intellectuelle-retard de langage-dysmorphie faciale-anomalies des lymphocytes T | Trouble du neurodéveloppement associé à BCL11B |
| de | Intelligenzminderung-Sprachverzögerung-dysmorphe Merkmale-T-Zell-Anomalien-Syndrom | BCL11B-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de discapacidad intelectual-retraso del habla-rasgos dismórficos-alteración de las células T | Trastorno del neurodesarrollo asociado a BCL11B |
| it | Sindrome disabilità intellettiva-ritardo del linguaggio-dismorfismi-anomalie dei linfociti T | Disturbo dello sviluppo neurologico correlato al gene BCL11B |
| nl | Intellectuele achterstand - spraakachterstand - dysmorfe kenmerken - T-celafwijkingen-syndroom | BCL11B-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de perturbação do desenvolvimento intelectual-perturbação da linguagem-características dismórficas-anomalia das células T | |
| pl | Zespół z niepełnosprawnością intelektualną, opóźnieniem mowy, cechami dysmorfii i nieprawidłowościami komórek T | = en |
| cs | Syndrom zahrnující intelektovou nedostatečnost, opoždění řeči, dysmorfické rysy a abnormality T-buněk | = en |
| uk | Синдром інтелектуальної недостатності-затримки мовлення-дисморфічних ознак-Т-клітинних аномалій |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618092 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0060763 | E | validated | |
| MONDO | 60763 | E | validated | |
| UMLS | C5925076 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological 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 |
|---|---|---|---|---|---|---|---|---|
| BCL11B | Disease-causing germline mutation(s) in | Assessed | HGNC:13222 | ENSG00000127152 | 606558 | 14q32.2 | BCL11 transcription factor B | 29985992[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/662829
- This record as JSON: /data/d/662829.json