The clinical synopsis of NSRP1-associated autosomal recessive disease trait includes:
• Developmental delay/intellectual disability – most patients are nonverbal and many remain nonambulatory.
• Epilepsy – beginning in infancy, often drug-resistant
• Abnormal brain imaging – simplified gyral pattern, underopercularization, superior and/or inferior cerebellar vermian hypoplasia, corpus callosum dysgenesis, thin brainstem
• Hypotonia
• Spasticity
• Microcephaly (Z-scores -0.95 to -5.60)
• Dysphagia
• Dysmorphic facies
NSRP1