Kaufman Oculocerebrofacial Syndrome

Alternative Names

  • KOS
  • Blepharophimosis-Ptosis-Intellectual Disability Syndrome
  • BPIDS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

244450

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12q24.11

Description

A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
244450.1United Arab EmiratesMaleYesYes Global developmental delay; Autism; Abno... NM_130466.3:c.2252A>GHomozygousAutosomal, RecessiveSaleh et al. 2021 Similarly affected s...
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