Primary autosomal recessive microcephaly 5

Common Name(s)

Primary autosomal recessive microcephaly 5

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipital-frontal (OFC) circumference, usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by {19:Woods et al., 2005}; {16:Saadi et al., 2009}; {10:Passemard et al., 2009}). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 ({251200}).
 

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Condition Specific Organizations

Following organizations serve the condition "Primary autosomal recessive microcephaly 5" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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