Nicolaides-Baraitser Syndrome

Preferred Label : Nicolaides-Baraitser Syndrome;

NCIt synonyms : NCBRS;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SMARCA2 gene, encoding probable global transcription activator SNF2L2. It is characterized by severe intellectual disability, early-onset seizures, and facial dysmorphia.;

Details

Origin ID

C205644;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SMARCA2 Gene [NCIt concept]

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