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hypotonia, ataxia, and delayed development syndrome (DOID:0081176)
Alliance: disease page
Alt IDs: OMIM:617330
Definition: A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory