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Disease Ontology Browser
Nicolaides-Baraitser syndrome (DOID:0081441)
Alliance: disease page
Synonyms: Intellectual disability-sparse hair-brachydactyly syndrome; SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Alt IDs: OMIM:601358, ORDO:3051
Definition: A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.

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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory