question: Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 130167464, gene SMPD4 (sphingomyelin phosphodiesterase 4). What disease(s) is it linked to if pathogenic?
answer: pathogenic; ['Neurodevelopmental_disorder_with_microcephaly,_arthrogryposis,_and_structural_brain_anomalies']