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.