hypotonia, ataxia, and delayed development syndrome

Term ID

DOID:0081176

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. (4)

References

• MIM:617330

Ontology

Human Disease   ( DOID:0081176 )