neuronal ceroid lipofuscinosis 7

A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygou

A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

Signs and symptoms

• Visual loss
• Cerebral atrophy
• Delayed speech and language development
• EEG abnormality
• Generalized myoclonic seizure
• Cerebellar atrophy
• Sleep disturbance
• Global developmental delay
• Pigmentary retinopathy
• Ataxia

Also known as: CLN7