| | | Deletion | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Deletion | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Duplication | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Deletion | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (inframe_deletion) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Indel (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | B3GALNT2 (R112del +1 more) | Microsatellite (inframe_deletion) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Deletion (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Deletion (inframe_deletion) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |