Patients with pathogenic variant in the LINS1 gene present with the following clinical features:
Face
• Flat nasal bridge
• Large ears
• Deep seated eyes
• Large forehead
• Microcephaly
• Midface hypoplasia
Developmental delay and neurological involvement
• Regression of psychomotor development
• Learning disability
• Hypotonia
• Stereotypical hand movements
Brain MRI findings
• Frontal lobe vascular malformation
• Non-specific periventricular white matter changes
Other findings
• Aggressive behavior
• Anxiety
• Schizophrenia
• Abnormal EEG with bilateral centrotemporal discharges
• Seizures
LINS1