Microcephaly 6, Primary, Autosomal Recessive

Alternative Names

  • MCPH6

Associated Genes

Centromeric Protein J
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

608393

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q12.12-q12.13

Description

Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
608393.1.1Saudi ArabiaFemaleYesYes Overlapping toe; Hyperreflexia; Hyperton... NM_018451.4:c.125_126delHomozygousAutosomal, RecessiveShaheen et al. 2019
608393.1.2Saudi ArabiaMaleYesYes Overlapping toe; Hyperreflexia; Hyperton... NM_018451.4:c.125_126delHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.1....
608393.1.3Saudi ArabiaMaleYesYes Overlapping toe; Hyperreflexia; Hyperton... NM_018451.4:c.125_126delHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.1....
608393.2Saudi ArabiaMaleNoYes Hyperreflexia; Hypertonia; Micrognathia;... NM_018451.5:c.133C>THomozygousAutosomal, RecessiveShaheen et al. 2019
608393.3.1Saudi ArabiaFemaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019
608393.3.2Saudi ArabiaFemaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.3....
608393.3.3Saudi ArabiaMaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.3....
608393.3.4Saudi ArabiaMaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.3....
608393.3.5Saudi ArabiaFemaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.3....
608393.3.6Saudi ArabiaFemaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.3....
608393.7Saudi ArabiaFemaleNoYes Lissencephaly; Agenesis of corpus callos... NM_018451.4:c.3302-1G>CHomozygousAutosomal, RecessiveShaheen et al. 2019 Sibling of 608393.3....
© CAGS 2021. All rights reserved.