The remaining five mutations were homozygous or compound heterozygous mutations that can cause a related disease: GBA (c.1292A > G, p.N431S), which may cause Parkinson’s disease; USH2A (c.13157 T > C, p.I4386T and c.12344G > A, p.R4115H), which can cause Usher syndrome or retinitis pigmentosa; SLC26A4 (c.757A > G, p.I253V), which can lead to Pendred syndrome and autosomal recessive deafness with enlarged vestibular aqueduct; and FKTN (c.556C > T, p.H186Y), which may be the cause of Fukuyama-type congenital muscular dystrophy (FCMD). Here, GBA1 is linked to Congenital muscular dystrophy, Fukuyama type.