Neurodevelopmental Disorder with or without Variable Brain Abnormalities

Preferred Label : Neurodevelopmental Disorder with or without Variable Brain Abnormalities;

NCIt synonyms : NEDBA;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MAPK8IP3 gene, encoding c-Jun-amino-terminal kinase-interacting protein 3. It is commonly characterized by global developmental delay, intellectual disability, and spastic diplegia. There may be associated brain abnormalities include cerebellar and/or cerebral atrophy, and hypoplasia of the corpus callosum.;

NCI Metathesaurus CUI : CL1371017;

Details

Origin ID

C206532;

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

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