Seckel syndrome type 5
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.
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