Seckel syndrome type 5

(redirected from SCKL5)

Seckel syndrome type 5

A rare autosomal recessive disorder (OMIM:613823) characterised by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed-like appearance, and mental retardation.

Molecular pathology
Defects of CEP152, which encodes a protein involved in centrosome function, cause Seckel syndrome type 5.