Kahrizi syndrome

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Kahrizi syndrome2016-11-26T13:34:02+00:00

Kahrizi syndrome

NEUROLOGY

Definition An autosomal recessive neurodevelopmental disorder (OMIM:612713) characterised by mental retardation, cataracts, coloboma, kyphosis, and coarse facies.

Molecular pathology Defects of SRD5A3, which encodes a steroid 5-alpha reductase that produces androgen 5-alpha-dihydrotestosterone—DHT from testosterone, and is required for synthesis of monosaccharides and the precursor used for N-linked glycosylation of proteins, cause Kahrizi syndrome. 

Synonyms Mental retardation—cataract—coloboma—and kyphosis—autosomal recessive 

References http://www.uniprot.org/uniprot/Q9H8P0

http://www.omim.org/entry/612713  

 

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