Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

Preferred Label : Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities;

Symbol : IDDFBA;

CISMeF acronym : IDDFBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the F-box only protein 11 gene (FBXO11, 607871.0001);

Prefixed ID : #618089;

Details

Origin ID

618089;

UMLS CUI

C4748135;

Genes related to phenotype
- F-box only protein 11 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Pes planus [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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