Chudley-McCullough Syndrome: A Novel Variant found in Two Siblings from
a Libyan Family
Abstract
We describe two siblings with Chudley-McCullough Syndrome born to
healthy consanguineous parents of Libyan descent. They presented with
hydrocephalus identified during the neonatal period and bilateral
profound hearing loss by one year of age. Genetic testing identified a
homozygous , novel GPSM2 gene nonsense variant,
c.1420C>T ( p.474Arg*). We review findings
, 
