Temtamy Syndrome

Alternative Names

  • TEMTYS
  • Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

218340

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12p13.31

Description

Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus [From Omim].

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
218340.1.1United Arab EmiratesFemaleYesYes Abnormal facial shape; Hypotonia; Intell... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband. Parents are...
218340.1.2United Arab EmiratesFemaleYesYes Abnormal facial shape; Hypotonia; Intell... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sister of proband.
218340.1.3United Arab EmiratesFemaleYesYes Abnormal facial shape; Hypotonia; Intell... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sister of proband.
218340.1.4United Arab EmiratesFemaleNo NM_001301834.1:c.1A>GHeterozygousAkizu et al. 2013 Healthy mother of pr...
218340.2United Arab EmiratesMaleYesYes Abnormal facial shape; Global developmen... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveSaleh et al. 2021 Affected cousin
218340.2.1 KuwaitFemaleYesYes Hypotonia; Intellectual disability; Auti... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband. Parents are...
218340.2.2KuwaitMaleYesYes Hypotonia; Intellectual disability; Auti... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.2.3KuwaitFemaleYesYes Hypotonia; Intellectual disability; Auti... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.3.1LibyaMaleYesYes Abnormal facial shape; Intellectual disa... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband.
218340.3.2LibyaMaleYesYes Abnormal facial shape; Intellectual disa... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.4.1PalestineMaleYesYes Abnormal facial shape; Intellectual disa... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband.
218340.4.2PalestineFemaleYesYes Abnormal facial shape; Hypotonia; Microc... NM_001301834.1:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
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