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neurodevelopmental disorder with speech impairment and dysmorphic facies (DOID:0070417)
Alliance: disease page
Synonyms: NEDSID
Alt IDs: OMIM:619056
Definition: A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.


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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory