Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

Preferred Label : Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies;

Symbol : NEDBAF;

CISMeF acronym : NEDBAF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Rac family small GTPase 3 gene (RAC3, 602050.0001);

Prefixed ID : #618577;

Details

Origin ID

618577;

UMLS CUI

C5231416;

Genes related to phenotype
- Ras-related c3 botulinum toxin substrate 3 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad philtrum [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic female external genitalia [HPO term]
- Intellectual disability, severe [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Plagiocephaly [HPO term]
- Proptosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Ulnar deviation of the wrist [HPO term]
- Unilambdoid synostosis [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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