Seckel syndrome type 5
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.