mental retardation—autosomal recessive 2

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mental retardation—autosomal recessive 22016-11-27T04:43:40+00:00

mental retardation—autosomal recessive 2

EMBRYOLOGY, NEUROLOGY 

Definition A disorder (OMIM:607417) characterised by non-syndromic below average intellectual functioning–IQ, 50-70, worse in males–and impaired adaptive behaviour first seen during development, without dysmorphic or autistic features or other clinical signs. Developmental milestones are mildly delayed.  

Molecular pathology Defects of CRBN, which encodes a protease which is thought to play a role in brain development, cause mental retardation—non-syndromic—autosomal recessive 2. 

Synonym Mental retardation—non-syndromic—autosomal recessive—type 2A

References http://www.uniprot.org/uniprot/Q96SW2

http://www.omim.org/entry/607417 

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