Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

Preferred Label : Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities;

Symbol : NEDASB;

CISMeF acronym : NEDASB;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurooncologic ventral antigen 2 gene (NOVA2, 601991.0001);

Prefixed ID : #618859;

Details

Origin ID

618859;

UMLS CUI

C5394311;

Genes related to phenotype
- Nova alternative splicing regulator 2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Brachycephaly [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chiari type I malformation [HPO term]
- Deep philtrum [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- High anterior hairline [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inappropriate laughter [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Recurrent hand flapping [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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