Baraitser-winter syndrome 2

Preferred Label : Baraitser-winter syndrome 2;

Symbol : BRWS2;

CISMeF acronym : BRWS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-1 actin gene (ACTG1, 102560.0009);

Prefixed ID : #614583;

Details

Origin ID

614583;

UMLS CUI

C3281235;

Automatic exact mappings (from CISMeF team)
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Baraitser Winter syndrome 2 [Disease (Nov.)]
DO Cross reference
- Baraitser-Winter syndrome [DO Concept]
Genes related to phenotype
- Actin, gamma-1 [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coloboma [HPO term]
- Hearing impairment [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Lissencephaly [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Microphthalmia [HPO term]
- Oral cleft [HPO term]
- Pachygyria [HPO term]
- Pointed chin [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Trigonocephaly [HPO term]
- Ventriculomegaly [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baraitser Winter syndrome 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Baraitser-Winter syndrome [DO Concept]

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