In affected individuals presenting with the ICCA syndrome, the human genome was screened with microsatellite markers regularly spaced, and strong evidence of linkage with the disease was obtained in the pericentromeric region of chromosome 16, with a maximum lod score, for D16S3133 of 6.76 at a recombination fraction of 0. The disease gene has been mapped at chromosome 16p12-q12. This linkage has been confirmed by different authors. The chromosome 16 ICCA locus shows complicated genomic architecture and the ICCA gene remains unknown.
Infantile convulsions and choreoathetosis
Acorea, microphthalmia and cataract syndrome
Benign neonatal sleep myoclonus
Bobble-head doll syndrome
New Brunswick neurological syndrome of unknown cause
Quadrigia
Echolalia
Paroniria