Seckel Syndrome 5/ Microcephaly 9 (CEP152)

Seckel syndrome (SCKL5) and Microcephaly 9 (MCPH9) are allelic disorders caused by pathogenic variants in the gene CEP152. Onset of SCKL5 is in utero and features are typically apparent at birth. This disorder is characterized by severe microcephaly, intellectual disability, short stature, and a characteristic facial appearance. Life expectancy can be reduced; some affected individuals have survived into the fifth decade of life.

Onset of MCPH9 is also in utero with features typically apparent at birth. This disorder is characterized by microcephaly and mild psychomotor delay. This condition is more mild than SCKL5. Life expectancy in affected individuals may be normal.

No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):