Microcephaly 8, Primary, Autosomal Recessive

Alternative Names

  • MCPH8
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

614673

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q12

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

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614673.1Saudi ArabiaMaleNoYes Agenesis of corpus callosum; Severe shor...NM_025009.5:c.2722C>THomozygousAutosomal, RecessiveShaheen et al. 2019
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