Present report | ||||||||
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Renier et al6 | Chitayat et al21 | Illarioshkin et al,8 Bertini et al22 | Christianson et al23 | Pettigrew et al24 | Wakeling et al25 | Family A | Family B | |
CH: cerebellar hypoplasia. DWV: Dandy-Walker variant. HY: hydrocephalus. CA: cerebellar atrophy. BGD: basal ganglia disease. NA: not available. U: only reported in one affected subject. | ||||||||
Number of affected males | 3 | 2 | 9 (7 and 2) | 16 | 9 | 3 | 4 | 1 |
Mental retardation | + | + | − | ++ | ++ | NA | + | + |
Cerebellar ataxia | − | − | + | + | + | NA | − | − |
Other neurological symptoms | Abnormal eye movements | None | External ophthalmoplegia | Ophthalmoplegia Epilepsy | Seizures Spasticity | NA | None | None |
MRI findings | CH, HY | CH | CA | CA | CH, BGD | DWV | CH | CH |
Macrocephaly | − | + | U | − | + | U | + | + |
Tall stature | U | + | U | − | − | NA | + | + |
Facial dysmorphism | − | + | − | + | + | NA | + | + |
Linkage data | NA | NA | Xp11.21-Xq24 | Xq24-Xq27.3 | Xq25-Xq27 | NA | OPHN1 mutation | OPHN1 mutation |