Kahrizi syndrome

Common Name(s)

Kahrizi syndrome

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by {2:Kahrizi et al., 2009}). See also congenital disorder of glycosylation type Iq (CDG1Q; {612379}), an allelic disorder with overlapping features.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kahrizi syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kahrizi syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
 

Author(s): Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi, Andreas Tzschach

Journal: Eur. J. Hum. Genet.. 2011 Jan;19(1):115-7.

 

As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying ...

Last Updated: 31 Dec 1969

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The terms "Kahrizi syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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