Clinical Characteristics

Patients with pathogenic variant in the LINS1 gene present with the following clinical features:

•    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