Seckel syndrome 6

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Seckel syndrome 62016-11-28T02:48:36+00:00

Seckel syndrome 6 

GENETICS

A rare autosomal recessive disorder (OMIM:614728) characterised by proportionate dwarfism of prenatal onset, low birth weight, growth and mental retardation, severe microcephaly, and a bird head-like appearance. 

Molecular pathology Defects of CEP63, which encodes a protein required for normal spindle assembly, cause Seckel syndrome 6.

References http://www.uniprot.org/uniprot/Q96MT8

http://www.omim.org/entry/614728

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