Alazami Syndrome

Alternative Names

  • ALAZS
  • Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615071

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q25

Description

Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Some patients have been reported with skeletal and behavioral features. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615071.1United Arab EmiratesMaleNoNo Intellectual disability; Failure to thri...NM_001267039.1:c.752delHomozygousAutosomal, RecessiveSaleh et al. 2021
615071.2.1Saudi ArabiaMaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012
615071.2.2Saudi ArabiaFemaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Sibling of 615071.2....
615071.2.3Saudi ArabiaMaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Relative of 615071.2...
615071.2.4Saudi ArabiaMaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Sibling of 615071.2....
615071.2.5Saudi ArabiaMaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Sibling of 615071.2....
615071.2.6Saudi ArabiaFemaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Relative of 615071.2...
615071.2.7Saudi ArabiaMaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Sibling of 615071.2....
615071.2.8Saudi ArabiaFemaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Sibling of 615071.2....
615071.2.9Saudi ArabiaFemaleYesYes Severe postnatal growth retardation; Int...NM_016648.4:c.1024_1030dupHomozygousAutosomal, RecessiveAlazami et al. 2012 Sibling of 615071.2....
615071.3.1AlgeriaFemaleYesYes Intellectual disability, severe; Severe ...NM_016648.4:c.503_504dupHomozygousAutosomal, RecessiveImbert-Bouteille et al. 2019
615071.3.2AlgeriaFemaleYesYes Intellectual disability, severe; Severe ...NM_016648.4:c.503_504dupHomozygousAutosomal, RecessiveImbert-Bouteille et al. 2019 Sibling of 615071.3....
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