NGS
B3GALTL (B3GLCT) chr13
B3GALTL (B3GLCT) chr13 Peters plus syndrome […]
Articles by ادمین سایت غربالگری
NGS
C21orf2 (CFAP410) chr21
C21orf2 (CFAP410) chr21 Cone-rod dystrophy — Retinal dystrophy with or without macular staphyloma — Spondylometaphyseal dysplasia axial […]
NGS
LEPREL1 (P3H2) chr3
LEPREL1 (P3H2) chr3 Myopia, high, with cataract and vitreoretinal degeneration […]
NGS
DFNB31 (WHRN) chr9
DFNB31 (WHRN) chr9 Nonsyndromic hearing loss — Usher syndrome, type 2D […]
NGS
C2orf71 (PCARE) chr2
C2orf71 (PCARE) chr2 Retinitis pigmentosa 54 […]
NGS
C10orf2 (TWNK) chr10
C10orf2 (TWNK) chr10 Ataxia neuropathy spectrum — Infantile-onset spinocerebellar ataxia (IOSCA) — Perrault syndrome — Progressive external ophthalmoplegia — mtDNA depletion syndrome, hepatocerebral form […]
NGS
GPR125 (ADGRA3) chr4
GPR125 (ADGRA3) chr4 Bipolar disorder — Schizophrenia […]
NGS
MFSD6L chr17
MFSD6L chr17 No disorders were found […]
NGS
GPR98 (ADGRV1)
GPR98 (ADGRV1) LEPREL1 (P3H2) […]
NGS