Infantile Cerebral and Cerebellar Atrophy (MED17)
Infantile cerebral and cerebellar atrophy is an autosomal recessive disorder caused by pathogenic variants in the gene MED17. To date, it has been reported exclusively in Bukharian and Kurdish Sephardic Jews. Onset is in the first months after birth. Features include microcephaly (a small head), epilepsy, and psychomotor delay. Presenting symptoms include difficulties swallowing, failure to thrive, jitteriness, poor visual fixation, truncal arching, and seizures. Life expectancy is not currently known. To date, all known cases have been homozygous for the same pathogenic variant and therefore no genotype-phenotype correlation has been described.
For information about carrier frequency and residual risk, please see the residual risk table.