Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Cerebral-Cerebellar-Coloboma Syndrome, X-Linked, also known as x-linked cerebral-cerebellar-coloboma syndrome syndrome, is related to optic atrophy 2 and neurodegeneration with brain iron accumulation 5, and has symptoms including seizures An important gene associated with Cerebral-Cerebellar-Coloboma Syndrome, X-Linked is LOC126863256 (BRD4-Independent Group 4 Enhancer GRCh37_chrX:48934848-48936047). Affiliated tissues include cortex and eye, and related phenotypes are intellectual disability and seizure