| | | Single nucleotide variant (missense variant) | Pericallosal lipoma +9 more | |
| | | Single nucleotide variant (intron variant) | Cryptorchidism +17 more | |
| | SRD5A3, SRD5A3-AS1 (F318fs) | Deletion (frameshift variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Low-set ears +9 more | |
| | | Deletion | Low-set ears +5 more | |
| | | Indel (frameshift variant) | Nystagmus +8 more | |
| | | Duplication (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Low-set ears +3 more | |
| | | Deletion (frameshift variant) | Hypertelorism +13 more | |
| | LOC126863207, MID1 (N589D +1 more) | Single nucleotide variant (missense variant) | Low-set ears +4 more | |
| | | Copy number loss | Intellectual disability, mild +7 more | |
| | | Copy number gain | Intellectual disability, mild +7 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Translocation | Anteriorly placed anus +13 more | |
| | | Translocation | Cryptorchidism +13 more | |
| | | Translocation | Athetosis +14 more | |
| | | Translocation | Anteverted nares +9 more | |
| | | Translocation | Hypertelorism +13 more | |
| | RIF1, NEB (P6320fs +2 more) | Deletion (frameshift variant) | Arthrogryposis multiplex congenita 6 +6 more | |
| | | Single nucleotide variant (missense variant) | Cleft palate +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hydrocephalus +25 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Mitochondrial disease | |