Seckel syndrome type 5(redirected from SCKL5)
Seckel syndrome type 5A 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.
Defects of CEP152, which encodes a protein involved in centrosome function, cause Seckel syndrome type 5.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.