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Bujnicki Lab Homepage

SECKEL SYNDROME 1
(OMIM ID: #210600 )

Known also as: SCKL1; SCKL; BIRD-HEADED DWARFISM; SECKEL-TYPE DWARFISM; NANOCEPHALIC DWARFISM; MICROCEPHALIC PRIMORDIAL DWARFISM I


Seckel syndrome (SCKL1) is caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein (ATR).
Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance.


DNA repair proteins related with SECKEL SYNDROME 1 (#210600 ) disease:
Following keywords are related to SECKEL SYNDROME 1:

Last modification of this entry: Oct. 11, 2010.

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