Microcephaly 20, Primary, Autosomal Recessive

Alternative Names

  • MCPH20
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

617914

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q32.1

Description

Primary microcephaly refers to the clinical finding of a head circumference more than 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. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617914.1.1Saudi ArabiaFemaleYesYes Primary microcephaly; Intellectual disab...NM_014875.3:c.4071G>AHomozygousAutosomal, RecessiveMoawia et al. 2017 Patient from 'family...
617914.1.2Saudi ArabiaFemaleYesYes Primary microcephaly; Intellectual disab...NM_014875.3:c.4071G>AHomozygousAutosomal, RecessiveMoawia et al. 2017 Sister of 617914.1.1
617914.1.3Saudi ArabiaMaleYesYes Primary microcephaly; Intellectual disab...NM_014875.3:c.4071G>AHomozygousAutosomal, RecessiveMoawia et al. 2017 Brother of 617914.1....
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