| 251300.1.1 | Lebanon | Intellectual disability, profound; Microcephaly; Ataxia; Spasticity; Dystonia; Delayed gross motor development; Feeding difficulties; Cerebellar atrophy; Optic atrophy; Strabismus; Short stature | Male | | Yes | Exhibited 2 distinct homozygous mutations. Phenotype likely attributed to the WDR73 mutation.
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| 251300.1.2 | Lebanon | Intellectual disability, profound; Microcephaly; Spasticity; Delayed gross motor development ; Optic atrophy; Short stature ; Strabismus | Male | | Yes | Sibling of 251300.1.1 |
| 251300.1.3 | Lebanon | Microcephaly; Intellectual disability, profound; Spasticity; Dystonia; Delayed gross motor development; Optic atrophy; Short stature; Strabismus | Male | | Yes | Distant cousin of 251300.1.1 |
| 251300.1.4 | Lebanon | Microcephaly; Intellectual disability, profound; Spasticity; Dystonia; Delayed gross motor development; Optic atrophy; Short stature ; Strabismus | Male | | Yes | Distant cousin of 251300.1.1 |
| 251300.1.5 | Lebanon | Microcephaly; Intellectual disability, profound; Infantile axial hypotonia; Spasticity; Delayed gross motor development; Delayed speech and language development; Cerebellar atrophy; Optic atrophy; Short stature; Ptosis | Female | | Yes | Distant cousin of 251300.1.1 |
| 251300.1.7 | Lebanon | | Female | | | Mother of 251300.1.1 |
| 251300.1.8 | Lebanon | | Female | | | Mother of 251300.1.3 |
| 251300.1.9 | Lebanon | | Male | | | Father of 251300.1.3 |
