Seckel syndrome type 4

Seckel syndrome type 4

A rare autosomal recessive disorder (OMIM:613676) 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 CENPJ, which encodes a protein involved in centrosome function, cause Seckel syndrome type 4.
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