Intellectual developmental disorder with persistence of fetal hemoglobin

Preferred Label : Intellectual developmental disorder with persistence of fetal hemoglobin;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with hereditary persistence of fetal hemoglobin; Dias-logan syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the B-cell CLL/lymphoma 11A gene (BCL11A, 606557.0001);

Prefixed ID : #617101;

Details

Origin ID

617101;

UMLS CUI

C4310833;

Currated CISMeF NLP mapping
- Hereditary persistence of fetal hemoglobin-intellectual disability syndrome [ORDO Disease]
Genes related to phenotype
- Baf chromatin remodeling complex subunit bcl11a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Cupped ear [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Overfolded helix [HPO term]
- Retrognathia [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Hereditary persistence of fetal hemoglobin-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dias-Logan syndrome [MedDRA Preferred Term]

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