Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts

Disease Term Disease ID Gene Symbol Classification References Source
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM SYNDROME 4
MONDO:0014104
ATP8A2 Causal
20683487 22892528 22912588 25590979 26273310 27679995 28397838 28454995 28940097 29531481
ClinVar Disgenet
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, OCULOMOTOR APRAXIA, CEREBELLAR CYSTS SYNDROME
C4014821
LAMA1 Unknown — Disgenet