MCPH3 | definition of MCPH3 by Medical dictionary
microcephaly type 3, primary, autosomal recessive (redirected from MCPH3)
microcephaly type 3, primary, autosomal recessive An autosomal recessive primary microcephaly (OMIM:604804) characterised by a disproportionately small brain and cerebral cortex, with a well-preserved gyral pattern and no major defects in cortical architecture. Microcephaly is defined by a head circumference ≥ 3 standard deviations below the age-related mean; primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
Caused by defects of CDK5RAP2, which encodes a protein involved in neuronal differentiation and microtubule polymerisation.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
- microcephaly type 1, primary, autosomal recessive
- microcephaly type 4, primary, autosomal recessive
- microcephaly type 5, primary, autosomal recessive
- microcephaly type 6, primary, autosomal recessive
- microcephaly type 7, primary, autosomal recessive
References in periodicals archive
Furthermore, Oki has succeeded in making the industry's thinnest and smallest FRD ever, witht an MCPH3
package size of 2.0 mm x 2.1 mm x 0.85mm.
- McPhadden, Samac, Merner, Barry
- McPhail test
- McPhail, M.K.
- McPhail, MK
- McPhar Extripasa Geosurveys Ltd
- McPhee, John
- McPhee, John Angus
- McPheeters treatment
- McPheeters, Herman Oscar
- McPherson Aimee Semple
- McPherson County
- McPherson County, Kansas
- McPherson County, KS
- McPherson County, NE
- McPherson County, Nebraska
- McPherson County, SD
- McPherson County, South Dakota
- McPherson Planning Local Redevelopment Authority
- McPherson Struts