Term Name: hypotonia, ataxia, and delayed development syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome