neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular sp

An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2.

Signs and symptoms

• Cerebellar atrophy
• Global developmental delay
• Motor delay
• Delayed speech and language development
• Hypotonia
• Ataxia
• Brisk reflexes
• Appendicular hypotonia
• Inability to walk
• Areflexia