hypotonia, ataxia, and delayed development syndrome

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_ba

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.

Signs and symptoms

• Generalized hypotonia
• Micropenis
• Weakness of facial musculature
• Dysphagia
• Broad-based gait
• Global developmental delay
• Intellectual disability
• Motor delay
• Strabismus
• Delayed speech and language development