Macrocephaly, acquired, with impaired intellectual development

Preferred Label : Macrocephaly, acquired, with impaired intellectual development;

Symbol : MACID;

CISMeF acronym : MACID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly, acquired, with mental retardation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor I/B gene (NFIB, 600728.0001);

Prefixed ID : #618286;

Details

Origin ID

618286;

UMLS CUI

C4748993;

Genes related to phenotype
- Nuclear factor I/b [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Downslanted palpebral fissures [HPO term]
- High forehead [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Narrow nasal bridge [HPO term]
- Sparse eyebrow [HPO term]
- Unilateral cryptorchidism [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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