Term Name: | hypotonia, ataxia, and delayed development syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081176] ( DOID:0081176 ) |