Term Name: | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |
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Synonyms: | NEDFBA |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. |
Ontology: | Human Disease [DOID:0070513] ( DOID:0070513 ) |