Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Preferred Label : Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities;

Symbol : IDDSFTA;

CISMeF acronym : IDDSFTA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BAF chromatin remodeling complex subunit BCL11B gene (BCL11B, 606558.0002);

Prefixed ID : #618092;

Details

Origin ID

618092;

UMLS CUI

C4748152;

Genes related to phenotype
- Baf chromatin remodeling complex subunit bcl11b [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Asthma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Eosinophilia [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Microdontia [HPO term]
- Myopathic facies [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Oligodontia [HPO term]
- Prominent nose [HPO term]
- Recurrent infections [HPO term]
- Short palpebral fissure [HPO term]
- Spasticity [HPO term]
- Thin eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients