neurodevelopmental disorder with spasticity and poor growth

An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chr

An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23.

Signs and symptoms

• Global developmental delay
• Limb hypertonia
• Failure to thrive
• Axial hypotonia
• Growth delay
• Secondary microcephaly
• Poor head control
• Short stature
• Seizure
• Intellectual disability

Also known as: NEDSG