Primary autosomal recessive microcephaly 2

Common Name(s)

Primary autosomal recessive microcephaly 2

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology ({4:Hofman, 1984}). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by {9:Yu et al., 2010}). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary autosomal recessive microcephaly 2" 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 "Primary autosomal recessive microcephaly 2" returned 3 free, full-text research articles on human participants. First 3 results:

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
 

Author(s): Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M Kaindl

Journal:

 

Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause ...

Last Updated: 16 Jan 2014

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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.
 

Author(s): G F Leal, E Roberts, E O Silva, S M R Costa, D J Hampshire, C G Woods

Journal: J. Med. Genet.. 2003 Jul;40(7):540-2.

 

Last Updated: 4 Jul 2003

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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.
 

Author(s): E Roberts, A P Jackson, A C Carradice, V J Deeble, J Mannan, Y Rashid, H Jafri, D P McHale, A F Markham, N J Lench, C G Woods

Journal: Eur. J. Hum. Genet.. ;7(7):815-20.

 

Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority ...

Last Updated: 20 Jan 2000

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Reviews from the PubMed Database

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The terms "Primary autosomal recessive microcephaly 2" returned 0 free, full-text review articles on human participants.

 
 
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