Intellectual developmental disorder with dysmorphic facies and ptosis

Preferred Label : Intellectual developmental disorder with dysmorphic facies and ptosis;

Symbol : IDDDFP;

CISMeF acronym : IDDDFP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the bromodomain- and PHD finger-containing protein gene (BRPF1, 602410.0001);

Prefixed ID : #617333;

Details

Origin ID

617333;

UMLS CUI

C4310617;

Genes related to phenotype
- Bromodomain- and phd finger-containing protein [OMIM gene]
HPO term(s)
- Abnormal myelination [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad forehead [HPO term]
- Camptodactyly [HPO term]
- Congenital onset [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]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Narrow mouth [HPO term]
- Ptosis [HPO term]
- Round face [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Variable expressivity [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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