neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities Disease Ontology Browser

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Disease Ontology Browser

neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (DOID:0070513)
Alliance: disease page
Synonyms: NEDFBA
Alt IDs: OMIM:620489
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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