Microcephaly And Chorioretinopathy, Autosomal Recessive, 2

Alternative Names

  • MCCRP2

Associated Genes

Polo-Like Kinase 4
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

616171

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q28.1

Description

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616171.1Saudi ArabiaFemaleYesYes Intrauterine growth retardation; Sloping... NM_014264.5:c.1299_1303delHomozygousAutosomal, RecessiveShaheen et al. 2019
616171.2Saudi ArabiaMaleYesYes NM_014264.5:c.1299_1303delHomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 616171.1
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