Zaki Syndrome

Alternative Names

  • ZKS
  • Microcephaly, Progressive, with Developmental Delay, Cupped Ears, and Dysmorphic Features
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

619648

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p31.3

Description

Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619648.1.1United Arab EmiratesFemaleYes Global developmental delay; Short statur...NM_024911.7:c.1175A>GHomozygousAutosomal, RecessiveChai et al. 2021 Patient from 'family...
619648.1.2United Arab EmiratesFemaleYes Global developmental delay; Short statur...NM_024911.7:c.1175A>GHomozygousAutosomal, RecessiveChai et al. 2021 Sister of 619648.1.1
619648.1.3United Arab EmiratesFemaleYes Global developmental delay; Short statur...NM_024911.7:c.1175A>GHomozygousAutosomal, RecessiveChai et al. 2021 Sister of 619648.1.1
619648.1.4United Arab EmiratesFemaleYes Global developmental delay; Short statur...NM_024911.7:c.1175A>GHomozygousAutosomal, RecessiveChai et al. 2021 Sister of 619648.1.1
619648.1.5United Arab EmiratesMaleYes Global developmental delay; Short statur...NM_024911.7:c.1175A>GHomozygousAutosomal, RecessiveChai et al. 2021 Brother of 619648.1....
619648.2.1EgyptFemaleYes Global developmental delay; Short statur...NM_024911.7:c.1433A>GHomozygousAutosomal, RecessiveChai et al. 2021 Patient from 'family...
619648.2.2EgyptFemaleYes Global developmental delay; Short statur...NM_024911.7:c.1433A>GHomozygousAutosomal, RecessiveChai et al. 2021 Sister of 619648.2.1
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