| | | Copy number loss | Hydrocephalus | |
| | | Copy number loss | Hydrocephalus | |
| | | Single nucleotide variant (splice acceptor variant) | Biliary, renal, neurologic, and skeletal syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus +1 more | |
| | | Copy number loss | Hypertelorism +6 more | |
| | | Duplication (frameshift variant) | Corpus callosum, agenesis of +4 more | |
| | | Single nucleotide variant (missense variant) | Ventriculomegaly +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hydrocephalus | |
| | | Duplication (frameshift variant) | Ciliary dyskinesia, primary, 40 +2 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Severe global developmental delay +7 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Inversion | Prominent forehead +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (intron variant) | Global developmental delay +3 more | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (splice donor variant) | Focal epilepsy +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +25 more | GPathogenic/Likely pathogenic |