Macrocephaly, dysmorphic facies, and psychomotor retardation

Definition:

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular membrane trafficking and ubiquitinization. It is also presumed to play a regulatory role in the mTOR pathway.

References:

[1]. O Ortega-Recalde, et al. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet. 2015 Oct;88(4):e1-3. [Content Brief]

[2]. Shagun Aggarwal, et al. A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. Am J Med Genet A. 2016 Jul;170(7):1868-73. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.