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;

NCIt synonyms : NEDASB;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the NOVA2 gene, encoding RNA-binding protein Nova-2. It is characterized by global developmental delay, impaired speech development, and behavioral characteristics of autism.;

NCI Metathesaurus CUI : CL1640464;

Details

Origin ID

C205642;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NOVA2 Gene [NCIt concept]

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