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_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband. Parents are...
218340.1.2United Arab EmiratesFemaleYesYes Abnormal facial shape; Hypotonia; Intell...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sister of proband.
218340.1.3United Arab EmiratesFemaleYesYes Abnormal facial shape; Hypotonia; Intell...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sister of proband.
218340.2United Arab EmiratesMaleYesYes Abnormal facial shape; Global developmen...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveSaleh et al. 2021 Affected cousin
218340.2.1 KuwaitFemaleYesYes Hypotonia; Intellectual disability; Auti...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband. Parents are...
218340.2.2KuwaitMaleYesYes Hypotonia; Intellectual disability; Auti...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.2.3KuwaitFemaleYesYes Hypotonia; Intellectual disability; Auti...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.3.1LibyaMaleYesYes Abnormal facial shape; Intellectual disa...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband.
218340.3.2LibyaMaleYesYes Abnormal facial shape; Intellectual disa...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.4.1PalestineMaleYesYes Abnormal facial shape; Intellectual disa...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Proband.
218340.4.2PalestineFemaleYesYes Abnormal facial shape; Hypotonia; Microc...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAkizu et al. 2013 Sibling of proband.
218340.5Saudi ArabiaUnknownYes Global developmental delay ; Autistic be...NM_138425.4:c.53-2A>GHomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.6Saudi ArabiaUnknownYes Global developmental delay ; Autistic be...NM_138425.4:c.53-2A>GHomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.7Saudi ArabiaUnknownYes Global developmental delay ; Autistic be...NM_138425.4:c.53-2A>GHomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.8Saudi ArabiaUnknownYes Global developmental delay ; Generalized...NM_138425.3:c.-3_2delinsGHomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.9Saudi ArabiaUnknownYes Global developmental delay ; Seizure ; A...NM_138425.3:c.-3_2delinsGHomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.10OmanUnknownYes Global developmental delay ; Seizure ; G...NM_138425.4:c.43C>THomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.11OmanUnknownYes Global developmental delay ; Seizure ; G...NM_138425.4:c.43C>THomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.12OmanUnknownYes Global developmental delay ; Generalized...NM_138425.3:c.229+2T>CHomozygousAutosomal, RecessiveAlrakaf et al. 2018
218340.13.1Saudi ArabiaMaleYesYes Hypertonia; Chorioretinal coloboma; Seiz...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveZahrani et al. 2013
218340.13.2Saudi ArabiaMaleYesYes Hypertonia; Chorioretinal coloboma; Glob...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveZahrani et al. 2013 Sibling of 218340.13...
218340.13.3Saudi ArabiaFemaleYesYes Hypertonia; Seizure; Profound global dev...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveZahrani et al. 2013 Sibling of 218340.13...
218340.13.4Saudi ArabiaMaleYesYes Seizure; Agenesis of corpus callosumNM_138425.4:c.1A>GHomozygousAutosomal, RecessiveZahrani et al. 2013 Sibling of 218340.13...
218340.14.1Saudi ArabiaFemaleNo Seizure; Profound global developmental d...NM_138425.4:c.1A>G, NM_138425.4:c.152T>ACompound heterozygousAutosomal, RecessiveZahrani et al. 2013; Patel et al. 2018 Parents belong to th...
218340.15.1JordanFemaleYesYes Global developmental delay; Intellectual...NM_138425.4:c.33G>CHomozygousAutosomal, RecessiveFroukh. 2017 Parents had five spo...
218340.16Saudi ArabiaMaleYes Microcephaly; Delayed gross motor develo...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveMonies et al. 2019
218340.17Saudi ArabiaFemaleNo Hypotonia; Autism; SeizureNM_138425.4:c.1A>GHomozygousAutosomal, RecessiveMonies et al. 2019
218340.18Saudi ArabiaMaleYes Intellectual disability, severeNM_138425.4:c.1A>GHomozygousAutosomal, RecessiveMonies et al. 2019
218340.19Saudi ArabiaMale Atrial septal defect; Ventricular septal...NM_138425.4:c.53-2A>GHomozygousAutosomal, RecessiveMonies et al. 2019
218340.G.1Saudi ArabiaUnknownYes Global developmental delay; Absent speec...NM_138425.4:c.1A>GHomozygousAutosomal, RecessiveAlrakaf et al. 2018; Patel et al. 2018 Group of 15 Saudi Ar...
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